A Novel Mutation in SNX10 Gene Causes Malignant Infantile Osteopetrosis
نویسندگان
چکیده
BACKGROUND Osteopetrosis is a group of genetically heterogonous diseases and the main feature of that is increased bone density due to osteoclast's abnormality. It has three clinical forms based on inheritance pattern, severity and age of onset: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). One of the recently discovered genes for ARO form is SNX10 that accounts for 4% of affected persons by this type. METHODS In this paper, a 15 years old girl affected by osteopetrosis has been analyzed for detecting causal mutation in known osteopetrosis genes. To get it done, amplified exons of the genes were sequenced and then were analyzed. RESULTS Direct sequencing of SNX10 gene showed a homozygous c.43delG variant in the patient. Both healthy parents were heterozygous for this variant. In silico analysis revealed that this novel variant can be considered as the cause of disease in the patient. CONCLUSION In this paper, a girl affected by osteopetrosis with a novel deletion in SNX10 gene was reported.
منابع مشابه
An SNX10 mutation causes malignant osteopetrosis of infancy.
BACKGROUND Osteopetrosis is a life-threatening, rare disorder typically resulting from osteoclast dysfunction and infrequently from failure to commitment to osteoclast lineage. Patients commonly present in infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, and bone marrow failure. In ∼70% of the patients there is a molecularly defined failure to maintain an acid p...
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