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A Novel Mutation in Snx10 Gene Causes Malignant Infantile Osteopetrosis



Amirfiroozy A1 ; Hamidieh AA2 ; Golchehre Z1 ; Rezamand A3 ; Yahyaei M1 ; Beiranvandi F1 ; Amirfiroozy S1 ; Keramatipour M1
Authors
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Authors Affiliations
  1. 1. Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Hematology-Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Children’s Hospital, Tabriz University of Medical Sciences, Tabriz, Iran

Source: Avicenna Journal of Medical Biotechnology Published:2017

Abstract

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. © 2017, Avicenna Journal of Medical Biotechnology. All rights reserved.