Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare condition, characterized by resistance to the parath...
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Published in | Diagnostics (Basel) Vol. 12; no. 12; p. 2997 |
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Abstract | Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare condition, characterized by resistance to the parathyroid hormone (PTH), as well as to many other hormones, and resulting in hypocalcemia, hyperphosphatemia, and elevated PTH. We report here the case of a 32-year-old woman with a long-standing history of non-treated hypocalcemia, in the context of an undiagnosed PHPT-1a. She had an intellectual disability, showed clinical features of the Albright hereditary osteodystrophy (AHO) and presented signs of multiple hormone resistances. She received treatment for seizures since the age of six. Examination of her mouth revealed a complete absence of teeth. Treatment of hypocalcemia and hormone deficiencies were started only at 29 years of age. Genetic testing demonstrated the presence of a frameshift variant in the
gene in the proband as well as in her mother. A Single Nucleotide Polymorphism (SNP) array analysis failed to demonstrate pathogenic copy number variants (CNVs) but showed several regions with loss of heterozygosity (LOHs) for a final percentage of 1.75%, compatible with a fifth degree of relationship. Clinical exome sequencing (CES) ruled out any damaging variants in all the teeth agenesis-related genes. In conclusion, although we performed an extensive genetic analysis in search of possible additional gene alterations that could explain the presence of the peculiar phenotypic characteristics observed in our patient, we could not find any additional genetic defects. Our results suggest that the association of genetically confirmed PHPT-1a and complete pseudo-anodontia associated with persistent patchy alopecia areata is a new additional nonclassical feature related to the
pathogenic variant. |
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AbstractList | Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare condition, characterized by resistance to the parathyroid hormone (PTH), as well as to many other hormones, and resulting in hypocalcemia, hyperphosphatemia, and elevated PTH. We report here the case of a 32-year-old woman with a long-standing history of non-treated hypocalcemia, in the context of an undiagnosed PHPT-1a. She had an intellectual disability, showed clinical features of the Albright hereditary osteodystrophy (AHO) and presented signs of multiple hormone resistances. She received treatment for seizures since the age of six. Examination of her mouth revealed a complete absence of teeth. Treatment of hypocalcemia and hormone deficiencies were started only at 29 years of age. Genetic testing demonstrated the presence of a frameshift variant in the GNAS gene in the proband as well as in her mother. A Single Nucleotide Polymorphism (SNP) array analysis failed to demonstrate pathogenic copy number variants (CNVs) but showed several regions with loss of heterozygosity (LOHs) for a final percentage of 1.75%, compatible with a fifth degree of relationship. Clinical exome sequencing (CES) ruled out any damaging variants in all the teeth agenesis-related genes. In conclusion, although we performed an extensive genetic analysis in search of possible additional gene alterations that could explain the presence of the peculiar phenotypic characteristics observed in our patient, we could not find any additional genetic defects. Our results suggest that the association of genetically confirmed PHPT-1a and complete pseudo-anodontia associated with persistent patchy alopecia areata is a new additional nonclassical feature related to the GNAS pathogenic variant. Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare condition, characterized by resistance to the parathyroid hormone (PTH), as well as to many other hormones, and resulting in hypocalcemia, hyperphosphatemia, and elevated PTH. We report here the case of a 32-year-old woman with a long-standing history of non-treated hypocalcemia, in the context of an undiagnosed PHPT-1a. She had an intellectual disability, showed clinical features of the Albright hereditary osteodystrophy (AHO) and presented signs of multiple hormone resistances. She received treatment for seizures since the age of six. Examination of her mouth revealed a complete absence of teeth. Treatment of hypocalcemia and hormone deficiencies were started only at 29 years of age. Genetic testing demonstrated the presence of a frameshift variant in the GNAS gene in the proband as well as in her mother. A Single Nucleotide Polymorphism (SNP) array analysis failed to demonstrate pathogenic copy number variants (CNVs) but showed several regions with loss of heterozygosity (LOHs) for a final percentage of 1.75%, compatible with a fifth degree of relationship. Clinical exome sequencing (CES) ruled out any damaging variants in all the teeth agenesis-related genes. In conclusion, although we performed an extensive genetic analysis in search of possible additional gene alterations that could explain the presence of the peculiar phenotypic characteristics observed in our patient, we could not find any additional genetic defects. Our results suggest that the association of genetically confirmed PHPT-1a and complete pseudo-anodontia associated with persistent patchy alopecia areata is a new additional nonclassical feature related to the GNAS pathogenic variant. Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare condition, characterized by resistance to the parathyroid hormone (PTH), as well as to many other hormones, and resulting in hypocalcemia, hyperphosphatemia, and elevated PTH. We report here the case of a 32-year-old woman with a long-standing history of non-treated hypocalcemia, in the context of an undiagnosed PHPT-1a. She had an intellectual disability, showed clinical features of the Albright hereditary osteodystrophy (AHO) and presented signs of multiple hormone resistances. She received treatment for seizures since the age of six. Examination of her mouth revealed a complete absence of teeth. Treatment of hypocalcemia and hormone deficiencies were started only at 29 years of age. Genetic testing demonstrated the presence of a frameshift variant in the gene in the proband as well as in her mother. A Single Nucleotide Polymorphism (SNP) array analysis failed to demonstrate pathogenic copy number variants (CNVs) but showed several regions with loss of heterozygosity (LOHs) for a final percentage of 1.75%, compatible with a fifth degree of relationship. Clinical exome sequencing (CES) ruled out any damaging variants in all the teeth agenesis-related genes. In conclusion, although we performed an extensive genetic analysis in search of possible additional gene alterations that could explain the presence of the peculiar phenotypic characteristics observed in our patient, we could not find any additional genetic defects. Our results suggest that the association of genetically confirmed PHPT-1a and complete pseudo-anodontia associated with persistent patchy alopecia areata is a new additional nonclassical feature related to the pathogenic variant. |
Audience | Academic |
Author | Mesoraca, Alvaro Salvati, Valentina Micolonghi, Caterina Torres, Barbara Pippi, Roberto Savio, Camilla Fabiani, Marco Petrucci, Simona Mancini, Rita Piane, Maria De Vitis, Claudia Goldoni, Marina Piccinetti, Annalisa Sciacchitano, Salvatore De Francesco, Gian Paolo |
AuthorAffiliation | 3 UOD Medical Genetics and Advanced Cell Diagnostics, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy 2 Department of Oncological Science, Breast Unit, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy 1 Department of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy 4 Scientific Direction, IRCCS Regina Elena National Cancer Institute, Via Elio Chianesi 53, 00144 Rome, Italy 5 Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy 9 Department of Oral and Maxillofacial Sciences, Sapienza University, Via Caserta 6, 00161 Rome, Italy 8 Department of Internal Medicine, Belcolle Hospital, Str. Sammartinese, 01100 Viterbo, Italy 6 ALTAMEDICA, Human Genetics, Viale Liegi 45, 00198 Rome, Italy 7 Department of Experimental Medicine, Faculty of Medicine and Dentistry, Policlinico Umberto I University Hospital, Sapienza University of Rome |
AuthorAffiliation_xml | – name: 4 Scientific Direction, IRCCS Regina Elena National Cancer Institute, Via Elio Chianesi 53, 00144 Rome, Italy – name: 7 Department of Experimental Medicine, Faculty of Medicine and Dentistry, Policlinico Umberto I University Hospital, Sapienza University of Rome, 49971 Rome, Italy – name: 6 ALTAMEDICA, Human Genetics, Viale Liegi 45, 00198 Rome, Italy – name: 8 Department of Internal Medicine, Belcolle Hospital, Str. Sammartinese, 01100 Viterbo, Italy – name: 1 Department of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy – name: 9 Department of Oral and Maxillofacial Sciences, Sapienza University, Via Caserta 6, 00161 Rome, Italy – name: 5 Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy – name: 3 UOD Medical Genetics and Advanced Cell Diagnostics, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy – name: 2 Department of Oncological Science, Breast Unit, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy |
Author_xml | – sequence: 1 givenname: Salvatore orcidid: 0000-0003-1492-5365 surname: Sciacchitano fullname: Sciacchitano, Salvatore organization: Department of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy – sequence: 2 givenname: Gian Paolo surname: De Francesco fullname: De Francesco, Gian Paolo organization: Department of Oncological Science, Breast Unit, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy – sequence: 3 givenname: Maria orcidid: 0000-0001-8569-247X surname: Piane fullname: Piane, Maria organization: UOD Medical Genetics and Advanced Cell Diagnostics, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy – sequence: 4 givenname: Camilla surname: Savio fullname: Savio, Camilla organization: UOD Medical Genetics and Advanced Cell Diagnostics, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy – sequence: 5 givenname: Claudia orcidid: 0000-0001-8899-2347 surname: De Vitis fullname: De Vitis, Claudia organization: Department of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy – sequence: 6 givenname: Simona surname: Petrucci fullname: Petrucci, Simona organization: UOD Medical Genetics and Advanced Cell Diagnostics, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy – sequence: 7 givenname: Valentina surname: Salvati fullname: Salvati, Valentina organization: Scientific Direction, IRCCS Regina Elena National Cancer Institute, Via Elio Chianesi 53, 00144 Rome, Italy – sequence: 8 givenname: Marina surname: Goldoni fullname: Goldoni, Marina organization: Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy – sequence: 9 givenname: Marco orcidid: 0000-0002-8763-0114 surname: Fabiani fullname: Fabiani, Marco organization: Department of Experimental Medicine, Faculty of Medicine and Dentistry, Policlinico Umberto I University Hospital, Sapienza University of Rome, 49971 Rome, Italy – sequence: 10 givenname: Alvaro surname: Mesoraca fullname: Mesoraca, Alvaro organization: ALTAMEDICA, Human Genetics, Viale Liegi 45, 00198 Rome, Italy – sequence: 11 givenname: Caterina orcidid: 0000-0002-4275-0032 surname: Micolonghi fullname: Micolonghi, Caterina organization: Department of Experimental Medicine, Faculty of Medicine and Dentistry, Policlinico Umberto I University Hospital, Sapienza University of Rome, 49971 Rome, Italy – sequence: 12 givenname: Barbara orcidid: 0000-0002-7007-7957 surname: Torres fullname: Torres, Barbara organization: Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy – sequence: 13 givenname: Annalisa surname: Piccinetti fullname: Piccinetti, Annalisa organization: Department of Internal Medicine, Belcolle Hospital, Str. Sammartinese, 01100 Viterbo, Italy – sequence: 14 givenname: Roberto surname: Pippi fullname: Pippi, Roberto organization: Department of Oral and Maxillofacial Sciences, Sapienza University, Via Caserta 6, 00161 Rome, Italy – sequence: 15 givenname: Rita surname: Mancini fullname: Mancini, Rita organization: Department of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy |
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Cites_doi | 10.1073/pnas.95.20.11846 10.1210/jcem.87.1.8133 10.1093/hmg/ddn164 10.1111/odi.12931 10.1038/gim.2012.94 10.1590/S0041-87812002000400006 10.1177/1055665618814661 10.3390/children9050723 10.1016/j.ajhg.2013.03.023 10.1002/humu.22265 10.1097/MED.0000000000000306 10.5021/ad.2009.21.2.154 10.1002/jbmr.385 10.1016/0030-4220(56)90073-1 10.1016/j.cll.2011.08.003 10.1001/archderm.1971.04000240058008 10.1371/journal.pone.0074601 10.1073/pnas.1810200115 10.1056/NEJM199005173222002 10.1111/j.1600-0722.2006.00406.x 10.1210/jc.2011-1048 10.1530/EJE-16-0107 10.1016/j.archoralbio.2016.03.012 10.1016/j.ajodo.2003.10.031 10.1016/j.ajhg.2008.11.006 10.1177/0022034512474469 10.1001/archpedi.1997.02170490089018 10.1002/jbmr.4092 10.1038/s41436-019-0686-8 10.1016/j.bone.2016.02.002 |
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Keywords | GNAS PHPT-1a pseudo-hypoparathyroidism type 1a pseudo-anodontia |
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Snippet | Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely... |
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SubjectTerms | Age Alopecia Anodontia Baldness Care and treatment Case Report Case studies Cataracts Diagnosis Enamel GNAS Hormones Hypocalcemia Mutation Obesity Overweight PHPT-1a pseudo-anodontia pseudo-hypoparathyroidism type 1a Pseudohypoparathyroidism Teeth |
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Title | Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? |
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