Avicenna J Med Biotech

arij002

Avicenna Journal of Medical Biotechnology

2008-2835 2008-4625

Avicenna Research Institute

ajmb292

A Novel Mutation in SNX10 Gene Causes Malignant Infantile Osteopetrosis

Amirfiroozy

Akbar

Hamidieh

Amir A.

Golchehre

Zahra

Department of Basic Sciences and Cellular and Molecular Nutrition, Faculty of Nutrition Sciences and Food Technology and National Nutrition and Food Technology Research Institute, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Rezamand

Azim

Yahyaei

Mahin

Obesity Research Center, Nutrition and Endocrine Research Center, Research Institute of Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Beiranvandi

Fatemeh

Department of Medical Biotechnology, Faculty of Advanced Medical Sciences, Tabriz University of Medical Sciences, Tabriz, Iran

Amirfiroozy

Soheyla

Department of Hepatitis and AIDS, Pasteur Institute of Iran, Tehran, Iran

Keramatipour

Mohammad

Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Science , Tehran, Iran

9 4 205 208 7 8 2016 21 12 2016

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.