Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

Abstract Autosomal recessive osteopetrosis (ARO, MIM 259700) is a genetically heterogeneous rare skeletal disorder characterized by failure of osteoclast resorption leading to pathologically increased bone density, bone marrow failure, and fractures. In the neuronopathic form neurological complicati...

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Published inBone (New York, N.Y.) Vol. 55; no. 2; pp. 292 - 297
Main Authors Ott, Claus-Eric, Fischer, Björn, Schröter, Phillipe, Richter, Reyk, Gupta, Neerja, Verma, Nishant, Kabra, Madhulika, Mundlos, Stefan, Rajab, Anna, Neitzel, Heidemarie, Kornak, Uwe
Format Journal Article
LanguageEnglish
Published Amsterdam Elsevier Inc 01.08.2013
Elsevier
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Abstract Abstract Autosomal recessive osteopetrosis (ARO, MIM 259700) is a genetically heterogeneous rare skeletal disorder characterized by failure of osteoclast resorption leading to pathologically increased bone density, bone marrow failure, and fractures. In the neuronopathic form neurological complications are especially severe and progressive. An early identification of the underlying genetic defect is imperative for assessment of prognosis and treatment by hematopoietic stem cell transplantation. Here we describe for the first time homozygous microdeletions of different sizes affecting the OSTM1 gene in two unrelated consanguineous families with children suffering from neuronopathic infantile malignant osteopetrosis. Patients showed an exceptionally severe phenotype with variable CNS malformations, seizures, blindness, and deafness. Multi-organ failure due to sepsis led to early death between six weeks and five months of age in spite of intensive care treatment. Analysis of the breakpoints revealed different mechanisms underlying both rearrangements. Microdeletions seem to represent a considerable portion of OSTM1 mutations and should therefore be included in a sufficient diagnostic screening.
AbstractList Abstract Autosomal recessive osteopetrosis (ARO, MIM 259700) is a genetically heterogeneous rare skeletal disorder characterized by failure of osteoclast resorption leading to pathologically increased bone density, bone marrow failure, and fractures. In the neuronopathic form neurological complications are especially severe and progressive. An early identification of the underlying genetic defect is imperative for assessment of prognosis and treatment by hematopoietic stem cell transplantation. Here we describe for the first time homozygous microdeletions of different sizes affecting the OSTM1 gene in two unrelated consanguineous families with children suffering from neuronopathic infantile malignant osteopetrosis. Patients showed an exceptionally severe phenotype with variable CNS malformations, seizures, blindness, and deafness. Multi-organ failure due to sepsis led to early death between six weeks and five months of age in spite of intensive care treatment. Analysis of the breakpoints revealed different mechanisms underlying both rearrangements. Microdeletions seem to represent a considerable portion of OSTM1 mutations and should therefore be included in a sufficient diagnostic screening.
Autosomal recessive osteopetrosis (ARO, MIM 259700) is a genetically heterogeneous rare skeletal disorder characterized by failure of osteoclast resorption leading to pathologically increased bone density, bone marrow failure, and fractures. In the neuronopathic form neurological complications are especially severe and progressive. An early identification of the underlying genetic defect is imperative for assessment of prognosis and treatment by hematopoietic stem cell transplantation. Here we describe for the first time homozygous microdeletions of different sizes affecting the OSTM1 gene in two unrelated consanguineous families with children suffering from neuronopathic infantile malignant osteopetrosis. Patients showed an exceptionally severe phenotype with variable CNS malformations, seizures, blindness, and deafness. Multi-organ failure due to sepsis led to early death between six weeks and five months of age in spite of intensive care treatment. Analysis of the breakpoints revealed different mechanisms underlying both rearrangements. Microdeletions seem to represent a considerable portion of OSTM1 mutations and should therefore be included in a sufficient diagnostic screening.
Autosomal recessive osteopetrosis (ARO, MIM 259700) is a genetically heterogeneous rare skeletal disorder characterized by failure of osteoclast resorption leading to pathologically increased bone density, bone marrow failure, and fractures. In the neuronopathic form neurological complications are especially severe and progressive. An early identification of the underlying genetic defect is imperative for assessment of prognosis and treatment by hematopoietic stem cell transplantation. Here we describe for the first time homozygous microdeletions of different sizes affecting the OSTM1 gene in two unrelated consanguineous families with children suffering from neuronopathic infantile malignant osteopetrosis. Patients showed an exceptionally severe phenotype with variable CNS malformations, seizures, blindness, and deafness. Multi-organ failure due to sepsis led to early death between six weeks and five months of age in spite of intensive care treatment. Analysis of the breakpoints revealed different mechanisms underlying both rearrangements. Microdeletions seem to represent a considerable portion of OSTM1 mutations and should therefore be included in a sufficient diagnostic screening. •We describe patients with autosomal recessive osteopetrosis due to microdeletions affecting the OSTM1 gene.•We confirm that OSTM1-related autosomal recessive osteopetrosis shows severe neurological involvement and early lethality.•OSTM1 microdeletions are a relatively frequent cause of neuronopathic autosomal recessive osteopetrosis.•A comprehensive mutation analysis should comprise testing for OSTM1 microdeletions.
Author Schröter, Phillipe
Gupta, Neerja
Fischer, Björn
Richter, Reyk
Rajab, Anna
Kornak, Uwe
Mundlos, Stefan
Ott, Claus-Eric
Kabra, Madhulika
Neitzel, Heidemarie
Verma, Nishant
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  fullname: Rajab, Anna
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  fullname: Neitzel, Heidemarie
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Issue 2
Keywords Infantile malignant osteopetrosis type 5
OPTB5
Autosomal recessive osteopetrosis
Copy number variation
Skeletal dysplasia
OSTM1
Human
Dysplasia
Diseases of the osteoarticular system
Malignant tumor
Homozygosity
Genetic disease
Osteopetrosis
Morphology
Deletion
Skeleton
Bone
Osteochondrodysplasia
Child
Cancer
Language English
License CC BY 4.0
Copyright © 2013 Elsevier Inc. All rights reserved.
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Snippet Abstract Autosomal recessive osteopetrosis (ARO, MIM 259700) is a genetically heterogeneous rare skeletal disorder characterized by failure of osteoclast...
Autosomal recessive osteopetrosis (ARO, MIM 259700) is a genetically heterogeneous rare skeletal disorder characterized by failure of osteoclast resorption...
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SubjectTerms Autosomal recessive osteopetrosis
Base Sequence
Biological and medical sciences
Consanguinity
Copy number variation
Diseases of the osteoarticular system
Female
Fundamental and applied biological sciences. Psychology
Gene Deletion
Homozygote
Humans
Infant
Infant, Newborn
Infantile malignant osteopetrosis type 5
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Membrane Proteins - genetics
Molecular Sequence Data
Multiple tumors. Solid tumors. Tumors in childhood (general aspects)
OPTB5
Orthopedics
Osteopetrosis - congenital
Osteopetrosis - genetics
Osteopetrosis - pathology
OSTM1
Pedigree
Real-Time Polymerase Chain Reaction
Skeletal dysplasia
Tumors
Ubiquitin-Protein Ligases - genetics
Vertebrates: anatomy and physiology, studies on body, several organs or systems
Title Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1
URI https://www.clinicalkey.es/playcontent/1-s2.0-S8756328213001506
https://dx.doi.org/10.1016/j.bone.2013.04.007
https://www.ncbi.nlm.nih.gov/pubmed/23685543
https://search.proquest.com/docview/1366576016
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