A Novel Mutation in SNX10 Gene Causes Malignant Infantile Osteopetrosis

en 29090071 A Novel Mutation in SNX10 Gene Causes Malignant Infantile Osteopetrosis 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. Iran, Mutation, Osteopetrosis, SNX10 205 208 https://www.ajmb.org/En/Article.aspx?id=292 https://www.ajmb.org/PDF/En/FullText/292.pdf AkbarAmirfiroozyDepartment of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran1173Amir A.HamidiehHematology-Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran1174ZahraGolchehreDepartment of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran1175AzimRezamandChildren's Hospital, Tabriz University of Medical Sciences, Tabriz, Iran1176MahinYahyaeiDepartment of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran1177FatemehBeiranvandiDepartment of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran , Iran1178SoheylaAmirfiroozyDepartment of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran1179MohammadKeramatipourDepartment of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran18