Autosomal Dominant Osteopetrosis: Clinical Severity and Natural History of 94 Subjects with a Chloride Channel 7 Gene Mutation
Context: Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical manifestations of this disease have not been well characterized since the discovery of the genetic basis of ADO. Objectives: The primary...
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| Published in | The journal of clinical endocrinology and metabolism Vol. 92; no. 3; pp. 771 - 778 |
|---|---|
| Main Authors | , , , |
| Format | Journal Article |
| Language | English |
| Published |
Bethesda, MD
Oxford University Press
01.03.2007
Endocrine Society |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Context: Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical manifestations of this disease have not been well characterized since the discovery of the genetic basis of ADO.
Objectives: The primary objectives were to improve our understanding of ADO clinical characteristics and to study the natural history of the disease in the largest series of patients reported to date.
Design and Setting: This study was primarily a retrospective cross-sectional analysis of individuals with a ClCN7 mutation that was conducted over a 4-yr period at a tertiary referral center and through family reunions. Longitudinal data on a subset of subjects were also studied.
Patients and Interventions: We studied 311 subjects from 11 ADO families, including 62 individuals with ADO (patients with the classic clinical phenotype based on radiographs and/or biochemistries), 32 unaffected gene carriers (subjects with the gene mutation but no radiographic and/or biochemical phenotype), and 217 controls who did not harbor a ClCN7 gene mutation. Clinical data were collected through patient interviews and examinations, medical records, and/or self-reported responses on a questionnaire that was completed by all subjects.
Main Outcome Measures: The prevalence of fracture, osteomyelitis, visual loss, and bone marrow failure was determined. Differences in clinical manifestations were analyzed according to affected vs. carrier status, age, and underlying genotype.
Results: Ninety-two percent of ADO subjects had at least one sequela of the disease. Gene carriers did not have an increased risk of disease manifestations, although they were found to have significant increases in bone mineral density (P < 0.05). Compared with controls, subjects with ADO had a significantly increased prevalence of fracture (84 vs. 36%; P < 0.0001) and osteomyelitis (16 vs. 0.9%; P < 0.0001). Severe fractures (defined as ≥10 fractures of any type and/or greater than one hip/femur fracture) were identified only in ADO subjects, and osteomyelitis typically occurred in the maxilla or mandible in older adults. Visual loss, which typically had its onset in childhood, and bone marrow failure occurred in 19 and 3% of ADO subjects, respectively. Adults were more likely to manifest an ADO clinical characteristic, but no definitive genotype-phenotype relationship could be concluded. Longitudinal data suggest that the ADO clinical phenotype worsens over time.
Conclusions: ADO caused by mutations in the CLCN7 gene is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, and occasional bone marrow failure. The sequelae of ADO, which can be identified as early as infancy, appear to worsen over time. Fracture is the most prevalent consequence of ADO, although other more severe manifestations of disease can occur and should not be confused with recessive forms of osteopetrosis, particularly when identified in early childhood. |
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| AbstractList | Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical manifestations of this disease have not been well characterized since the discovery of the genetic basis of ADO.CONTEXTAutosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical manifestations of this disease have not been well characterized since the discovery of the genetic basis of ADO.The primary objectives were to improve our understanding of ADO clinical characteristics and to study the natural history of the disease in the largest series of patients reported to date.OBJECTIVESThe primary objectives were to improve our understanding of ADO clinical characteristics and to study the natural history of the disease in the largest series of patients reported to date.This study was primarily a retrospective cross-sectional analysis of individuals with a ClCN7 mutation that was conducted over a 4-yr period at a tertiary referral center and through family reunions. Longitudinal data on a subset of subjects were also studied.DESIGN AND SETTINGThis study was primarily a retrospective cross-sectional analysis of individuals with a ClCN7 mutation that was conducted over a 4-yr period at a tertiary referral center and through family reunions. Longitudinal data on a subset of subjects were also studied.We studied 311 subjects from 11 ADO families, including 62 individuals with ADO (patients with the classic clinical phenotype based on radiographs and/or biochemistry), 32 unaffected gene carriers (subjects with the gene mutation but no radiographic and/or biochemical phenotype), and 217 controls who did not harbor a ClCN7 gene mutation. Clinical data were collected through patient interviews and examinations, medical records, and/or self-reported responses on a questionnaire that was completed by all subjects.PATIENTS AND INTERVENTIONSWe studied 311 subjects from 11 ADO families, including 62 individuals with ADO (patients with the classic clinical phenotype based on radiographs and/or biochemistry), 32 unaffected gene carriers (subjects with the gene mutation but no radiographic and/or biochemical phenotype), and 217 controls who did not harbor a ClCN7 gene mutation. Clinical data were collected through patient interviews and examinations, medical records, and/or self-reported responses on a questionnaire that was completed by all subjects.The prevalence of fracture, osteomyelitis, visual loss, and bone marrow failure was determined. Differences in clinical manifestations were analyzed according to affected vs. carrier status, age, and underlying genotype.MAIN OUTCOME MEASURESThe prevalence of fracture, osteomyelitis, visual loss, and bone marrow failure was determined. Differences in clinical manifestations were analyzed according to affected vs. carrier status, age, and underlying genotype.Ninety-two percent of ADO subjects had at least one sequela of the disease. Gene carriers did not have an increased risk of disease manifestations, although they were found to have significant increases in bone mineral density (P < 0.05). Compared with controls, subjects with ADO had a significantly increased prevalence of fracture (84 vs. 36%; P < 0.0001) and osteomyelitis (16 vs. 0.9%; P < 0.0001). Severe fractures (defined as > or =10 fractures of any type and/or greater than one hip/femur fracture) were identified only in ADO subjects, and osteomyelitis typically occurred in the maxilla or mandible in older adults. Visual loss, which typically had its onset in childhood, and bone marrow failure occurred in 19 and 3% of ADO subjects, respectively. Adults were more likely to manifest an ADO clinical characteristic, but no definitive genotype-phenotype relationship could be concluded. Longitudinal data suggest that the ADO clinical phenotype worsens over time.RESULTSNinety-two percent of ADO subjects had at least one sequela of the disease. Gene carriers did not have an increased risk of disease manifestations, although they were found to have significant increases in bone mineral density (P < 0.05). Compared with controls, subjects with ADO had a significantly increased prevalence of fracture (84 vs. 36%; P < 0.0001) and osteomyelitis (16 vs. 0.9%; P < 0.0001). Severe fractures (defined as > or =10 fractures of any type and/or greater than one hip/femur fracture) were identified only in ADO subjects, and osteomyelitis typically occurred in the maxilla or mandible in older adults. Visual loss, which typically had its onset in childhood, and bone marrow failure occurred in 19 and 3% of ADO subjects, respectively. Adults were more likely to manifest an ADO clinical characteristic, but no definitive genotype-phenotype relationship could be concluded. Longitudinal data suggest that the ADO clinical phenotype worsens over time.ADO caused by mutations in the CLCN7 gene is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, and occasional bone marrow failure. The sequelae of ADO, which can be identified as early as infancy, appear to worsen over time. Fracture is the most prevalent consequence of ADO, although other more severe manifestations of disease can occur and should not be confused with recessive forms of osteopetrosis, particularly when identified in early childhood.CONCLUSIONSADO caused by mutations in the CLCN7 gene is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, and occasional bone marrow failure. The sequelae of ADO, which can be identified as early as infancy, appear to worsen over time. Fracture is the most prevalent consequence of ADO, although other more severe manifestations of disease can occur and should not be confused with recessive forms of osteopetrosis, particularly when identified in early childhood. CONTEXT: Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical manifestations of this disease have not been well characterized since the discovery of the genetic basis of ADO. OBJECTIVES: The primary objectives were to improve our understanding of ADO clinical characteristics and to study the natural history of the disease in the largest series of patients reported to date. DESIGN AND SETTING: This study was primarily a retrospective cross-sectional analysis of individuals with a ClCN7 mutation that was conducted over a 4-yr period at a tertiary referral center and through family reunions. Longitudinal data on a subset of subjects were also studied. Patients and Interventions: We studied 311 subjects from 11 ADO families, including 62 individuals with ADO (patients with the classic clinical phenotype based on radiographs and/or biochemistries), 32 unaffected gene carriers (subjects with the gene mutation but no radiographic and/or biochemical phenotype), and 217 controls who did not harbor a ClCN7 gene mutation. Clinical data were collected through patient interviews and examinations, medical records, and/or self-reported responses on a questionnaire that was completed by all subjects. MAIN OUTCOME MEASURES: The prevalence of fracture, osteomyelitis, visual loss, and bone marrow failure was determined. Differences in clinical manifestations were analyzed according to affected vs. carrier status, age, and underlying genotype. RESULTS: Ninety-two percent of ADO subjects had at least one sequela of the disease. Gene carriers did not have an increased risk of disease manifestations, although they were found to have significant increases in bone mineral density (P < 0.05). Compared with controls, subjects with ADO had a significantly increased prevalence of fracture (84 vs. 36%; P < 0.0001) and osteomyelitis (16 vs. 0.9%; P < 0.0001). Severe fractures (defined as greater than or equal to 10 fractures of any type and/or greater than one hip/femur fracture) were identified only in ADO subjects, and osteomyelitis typically occurred in the maxilla or mandible in older adults. Visual loss, which typically had its onset in childhood, and bone marrow failure occurred in 19 and 3% of ADO subjects, respectively. Adults were more likely to manifest an ADO clinical characteristic, but no definitive genotype-phenotype relationship could be concluded. Longitudinal data suggest that the ADO clinical phenotype worsens over time. CONCLUSIONS: ADO caused by mutations in the CLCN7 gene is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, and occasional bone marrow failure. The sequelae of ADO, which can be identified as early as infancy, appear to worsen over time. Fracture is the most prevalent consequence of ADO, although other more severe manifestations of disease can occur and should not be confused with recessive forms of osteopetrosis, particularly when identified in early childhood. Context: Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical manifestations of this disease have not been well characterized since the discovery of the genetic basis of ADO. Objectives: The primary objectives were to improve our understanding of ADO clinical characteristics and to study the natural history of the disease in the largest series of patients reported to date. Design and Setting: This study was primarily a retrospective cross-sectional analysis of individuals with a ClCN7 mutation that was conducted over a 4-yr period at a tertiary referral center and through family reunions. Longitudinal data on a subset of subjects were also studied. Patients and Interventions: We studied 311 subjects from 11 ADO families, including 62 individuals with ADO (patients with the classic clinical phenotype based on radiographs and/or biochemistries), 32 unaffected gene carriers (subjects with the gene mutation but no radiographic and/or biochemical phenotype), and 217 controls who did not harbor a ClCN7 gene mutation. Clinical data were collected through patient interviews and examinations, medical records, and/or self-reported responses on a questionnaire that was completed by all subjects. Main Outcome Measures: The prevalence of fracture, osteomyelitis, visual loss, and bone marrow failure was determined. Differences in clinical manifestations were analyzed according to affected vs. carrier status, age, and underlying genotype. Results: Ninety-two percent of ADO subjects had at least one sequela of the disease. Gene carriers did not have an increased risk of disease manifestations, although they were found to have significant increases in bone mineral density (P < 0.05). Compared with controls, subjects with ADO had a significantly increased prevalence of fracture (84 vs. 36%; P < 0.0001) and osteomyelitis (16 vs. 0.9%; P < 0.0001). Severe fractures (defined as ≥10 fractures of any type and/or greater than one hip/femur fracture) were identified only in ADO subjects, and osteomyelitis typically occurred in the maxilla or mandible in older adults. Visual loss, which typically had its onset in childhood, and bone marrow failure occurred in 19 and 3% of ADO subjects, respectively. Adults were more likely to manifest an ADO clinical characteristic, but no definitive genotype-phenotype relationship could be concluded. Longitudinal data suggest that the ADO clinical phenotype worsens over time. Conclusions: ADO caused by mutations in the CLCN7 gene is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, and occasional bone marrow failure. The sequelae of ADO, which can be identified as early as infancy, appear to worsen over time. Fracture is the most prevalent consequence of ADO, although other more severe manifestations of disease can occur and should not be confused with recessive forms of osteopetrosis, particularly when identified in early childhood. Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical manifestations of this disease have not been well characterized since the discovery of the genetic basis of ADO. The primary objectives were to improve our understanding of ADO clinical characteristics and to study the natural history of the disease in the largest series of patients reported to date. This study was primarily a retrospective cross-sectional analysis of individuals with a ClCN7 mutation that was conducted over a 4-yr period at a tertiary referral center and through family reunions. Longitudinal data on a subset of subjects were also studied. We studied 311 subjects from 11 ADO families, including 62 individuals with ADO (patients with the classic clinical phenotype based on radiographs and/or biochemistry), 32 unaffected gene carriers (subjects with the gene mutation but no radiographic and/or biochemical phenotype), and 217 controls who did not harbor a ClCN7 gene mutation. Clinical data were collected through patient interviews and examinations, medical records, and/or self-reported responses on a questionnaire that was completed by all subjects. The prevalence of fracture, osteomyelitis, visual loss, and bone marrow failure was determined. Differences in clinical manifestations were analyzed according to affected vs. carrier status, age, and underlying genotype. Ninety-two percent of ADO subjects had at least one sequela of the disease. Gene carriers did not have an increased risk of disease manifestations, although they were found to have significant increases in bone mineral density (P < 0.05). Compared with controls, subjects with ADO had a significantly increased prevalence of fracture (84 vs. 36%; P < 0.0001) and osteomyelitis (16 vs. 0.9%; P < 0.0001). Severe fractures (defined as > or =10 fractures of any type and/or greater than one hip/femur fracture) were identified only in ADO subjects, and osteomyelitis typically occurred in the maxilla or mandible in older adults. Visual loss, which typically had its onset in childhood, and bone marrow failure occurred in 19 and 3% of ADO subjects, respectively. Adults were more likely to manifest an ADO clinical characteristic, but no definitive genotype-phenotype relationship could be concluded. Longitudinal data suggest that the ADO clinical phenotype worsens over time. ADO caused by mutations in the CLCN7 gene is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, and occasional bone marrow failure. The sequelae of ADO, which can be identified as early as infancy, appear to worsen over time. Fracture is the most prevalent consequence of ADO, although other more severe manifestations of disease can occur and should not be confused with recessive forms of osteopetrosis, particularly when identified in early childhood. Context: Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical manifestations of this disease have not been well characterized since the discovery of the genetic basis of ADO. Objectives: The primary objectives were to improve our understanding of ADO clinical characteristics and to study the natural history of the disease in the largest series of patients reported to date. Design and Setting: This study was primarily a retrospective cross-sectional analysis of individuals with a ClCN7 mutation that was conducted over a 4-yr period at a tertiary referral center and through family reunions. Longitudinal data on a subset of subjects were also studied. Patients and Interventions: We studied 311 subjects from 11 ADO families, including 62 individuals with ADO (patients with the classic clinical phenotype based on radiographs and/or biochemistries), 32 unaffected gene carriers (subjects with the gene mutation but no radiographic and/or biochemical phenotype), and 217 controls who did not harbor a ClCN7 gene mutation. Clinical data were collected through patient interviews and examinations, medical records, and/or self-reported responses on a questionnaire that was completed by all subjects. Main Outcome Measures: The prevalence of fracture, osteomyelitis, visual loss, and bone marrow failure was determined. Differences in clinical manifestations were analyzed according to affected vs. carrier status, age, and underlying genotype. Results: Ninety-two percent of ADO subjects had at least one sequela of the disease. Gene carriers did not have an increased risk of disease manifestations, although they were found to have significant increases in bone mineral density (P < 0.05). Compared with controls, subjects with ADO had a significantly increased prevalence of fracture (84 vs. 36%; P < 0.0001) and osteomyelitis (16 vs. 0.9%; P < 0.0001). Severe fractures (defined as ≥10 fractures of any type and/or greater than one hip/femur fracture) were identified only in ADO subjects, and osteomyelitis typically occurred in the maxilla or mandible in older adults. Visual loss, which typically had its onset in childhood, and bone marrow failure occurred in 19 and 3% of ADO subjects, respectively. Adults were more likely to manifest an ADO clinical characteristic, but no definitive genotype-phenotype relationship could be concluded. Longitudinal data suggest that the ADO clinical phenotype worsens over time. Conclusions: ADO caused by mutations in the CLCN7 gene is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, and occasional bone marrow failure. The sequelae of ADO, which can be identified as early as infancy, appear to worsen over time. Fracture is the most prevalent consequence of ADO, although other more severe manifestations of disease can occur and should not be confused with recessive forms of osteopetrosis, particularly when identified in early childhood. |
| Author | Econs, Michael J. Hui, Siu L. DiMeglio, Linda A. Waguespack, Steven G. |
| Author_xml | – sequence: 1 givenname: Steven G. surname: Waguespack fullname: Waguespack, Steven G. email: swagues@mdanderson.org. organization: 1Department of Endocrine Neoplasia and Hormonal Disorders (S.G.W.), University of Texas M. D. Anderson Cancer Center, Houston, Texas 77030 – sequence: 2 givenname: Siu L. surname: Hui fullname: Hui, Siu L. organization: 2Department of Medicine (S.L.H., M.J.E.), Indiana University School of Medicine, Indianapolis, Indiana 46202 – sequence: 3 givenname: Linda A. surname: DiMeglio fullname: DiMeglio, Linda A. organization: 3Department of Pediatrics (L.A.D.), Indiana University School of Medicine, Indianapolis, Indiana 46202 – sequence: 4 givenname: Michael J. surname: Econs fullname: Econs, Michael J. organization: 2Department of Medicine (S.L.H., M.J.E.), Indiana University School of Medicine, Indianapolis, Indiana 46202 |
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| ContentType | Journal Article |
| Copyright | Copyright © 2007 by The Endocrine Society 2007 2007 INIST-CNRS Copyright © 2007 by The Endocrine Society |
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| Keywords | Human Diseases of the osteoarticular system Ionic channel Severity Genetic disease Osteopetrosis Gene Autosomal character Chlorides Genetics Mutation Osteochondrodysplasia Endocrinology Natural history |
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| References_xml | – volume: 87 start-page: 2212 year: 2002 ident: key 2019041113525112800_R14 article-title: Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers. publication-title: J Clin Endocrinol Metab doi: 10.1210/jcem.87.5.8497 – volume: 133 start-page: 216 year: 2005 ident: key 2019041113525112800_R25 article-title: Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations. publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.30490 – volume: 26 start-page: 87 year: 2000 ident: key 2019041113525112800_R13 article-title: Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients. publication-title: Bone doi: 10.1016/S8756-3282(99)00244-6 – volume: 13 start-page: 97 year: 2002 ident: key 2019041113525112800_R20 article-title: Biomechanics of bone: determinants of skeletal fragility and bone quality. publication-title: Osteoporos Int doi: 10.1007/s001980200000 – volume: 43 start-page: 487 year: 1999 ident: key 2019041113525112800_R22 article-title: Blindness from bad bones. publication-title: Surv Ophthalmol doi: 10.1016/S0039-6257(99)00048-X – volume: 104 start-page: 205 year: 2001 ident: key 2019041113525112800_R10 article-title: Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. publication-title: Cell doi: 10.1016/S0092-8674(01)00206-9 – volume: 18 start-page: 1513 year: 2003 ident: key 2019041113525112800_R3 article-title: Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. publication-title: J Bone Miner Res doi: 10.1359/jbmr.2003.18.8.1513 – volume: 37 start-page: 655 year: 2005 ident: key 2019041113525112800_R26 article-title: Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes. publication-title: Bone doi: 10.1016/j.bone.2005.06.003 – volume: 15 start-page: 613 year: 2000 ident: key 2019041113525112800_R19 article-title: Suppressed bone turnover by bisphosphonates increases microdamage accumulation and reduces some biomechanical properties in dog rib. publication-title: J Bone Miner Res doi: 10.1359/jbmr.2000.15.4.613 – volume: 72 start-page: 763 year: 2003 ident: key 2019041113525112800_R8 article-title: Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. publication-title: Am J Hum Genet doi: 10.1086/368277 – volume: 18 start-page: 1740 year: 2003 ident: key 2019041113525112800_R11 article-title: Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. publication-title: J Bone Miner Res doi: 10.1359/jbmr.2003.18.10.1740 – volume: 351 start-page: 2839 year: 2004 ident: key 2019041113525112800_R4 article-title: Osteopetrosis. publication-title: N Engl J Med doi: 10.1056/NEJMra040952 – volume: 47 start-page: 149 year: 1968 ident: key 2019041113525112800_R17 article-title: Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form. publication-title: Medicine (Baltimore) doi: 10.1097/00005792-196803000-00004 – volume: 133 start-page: 955 year: 1979 ident: key 2019041113525112800_R21 article-title: Visual loss in osteopetrosis. publication-title: Am J Dis Child – volume: 377 start-page: 241 year: 2000 ident: key 2019041113525112800_R15 article-title: Serum creatine kinase isoenzyme BB in mammalian osteopetrosis. publication-title: Clin Orthop doi: 10.1097/00003086-200008000-00032 – volume: 50 start-page: 883 year: 2004 ident: key 2019041113525112800_R16 article-title: Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis). publication-title: Clin Chem doi: 10.1373/clinchem.2003.029355 – volume: 63 start-page: 1567 year: 2005 ident: key 2019041113525112800_R24 article-title: Bisphosphonate-induced exposed bone (osteonecrosis/osteopetrosis) of the jaws: risk factors, recognition, prevention, and treatment. publication-title: J Oral Maxillofac Surg doi: 10.1016/j.joms.2005.07.010 – volume: 77 start-page: 263 year: 2005 ident: key 2019041113525112800_R5 article-title: A clinical and molecular overview of the human osteopetroses. publication-title: Calcif Tissue Int doi: 10.1007/s00223-005-0027-6 – volume: 9 start-page: 7 year: 1988 ident: key 2019041113525112800_R6 article-title: Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. publication-title: Bone doi: 10.1016/8756-3282(88)90021-X – volume: 98 start-page: 411 year: 1988 ident: key 2019041113525112800_R23 article-title: Autosomal dominant osteopetrosis: an otoneurological investigation of the two radiological types. publication-title: Laryngoscope doi: 10.1288/00005537-198804000-00011 – volume: 60 start-page: 110 year: 1989 ident: key 2019041113525112800_R7 article-title: Fracture patterns in two types of autosomal-dominant osteopetrosis. publication-title: Acta Orthop Scand doi: 10.3109/17453678909150106 – volume: 10 start-page: 1767 year: 2001 ident: key 2019041113525112800_R12 article-title: The mutational spectrum of human malignant autosomal recessive osteopetrosis. publication-title: Hum Mol Genet doi: 10.1093/hmg/10.17.1767 – volume: 22 start-page: 587 year: 1993 ident: key 2019041113525112800_R18 article-title: Benign osteopetrosis: a review of 42 cases showing two different patterns. publication-title: Skeletal Radiol doi: 10.1007/BF00197140 – volume: 74 start-page: 46 year: 1955 ident: key 2019041113525112800_R1 article-title: Osteopetrosis in adults. publication-title: AJR Am J Roentgenol – volume: 10 start-page: 2861 year: 2001 ident: key 2019041113525112800_R2 article-title: Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. publication-title: Hum Mol Genet doi: 10.1093/hmg/10.25.2861 – volume: 167 start-page: 1341 year: 2005 ident: key 2019041113525112800_R9 article-title: Osteoclasts from patients with autosomal dominant osteopetrosis type I caused by a T253I mutation in low-density lipoprotein receptor-related protein 5 are normal in vitro, but have decreased resorption capacity in vivo. publication-title: Am J Pathol doi: 10.1016/S0002-9440(10)61221-7 |
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| Snippet | Context: Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The... Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical... CONTEXT: Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The... |
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| SubjectTerms | Adolescent Adult Aged Aged, 80 and over Biological and medical sciences Bone Density Bone marrow Bone Marrow Diseases - epidemiology Bone Marrow Diseases - genetics Bone mineral density Child Child, Preschool Children Chloride Channels - genetics Complications Cross-Sectional Studies Endocrinopathies Femur Fractures Fractures, Spontaneous - epidemiology Fractures, Spontaneous - genetics Fundamental and applied biological sciences. Psychology Genes, Dominant Genotype & phenotype Genotypes Hereditary diseases Humans Infant Maxilla Medical records Medical sciences Middle Aged Mutation Osteomyelitis Osteomyelitis - epidemiology Osteomyelitis - genetics Osteopetrosis Osteopetrosis - epidemiology Osteopetrosis - genetics Patients Phenotypes Point mutation Prevalence Retrospective Studies Risk assessment Vertebrates: endocrinology Vision Disorders - epidemiology Vision Disorders - genetics |
| Title | Autosomal Dominant Osteopetrosis: Clinical Severity and Natural History of 94 Subjects with a Chloride Channel 7 Gene Mutation |
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