Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

• Published in: Bone (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
• Language: English
• Published: Amsterdam Elsevier Inc 01.08.2013; Elsevier
• Subjects: 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; 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

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...