Author/Authors :
Amirfiroozy, Akbar Department of Medical Genetics - Faculty of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Hamidieh, Amir A Hematology-Oncology and Stem Cell Transplantation Research Center - Tehran University of Medical Sciences, Tehran, Iran , Golchehre, Zahra Department of Medical Genetics - Faculty of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Rezamand, Azim Children's Hospital - Tabriz University of Medical Sciences, Tabriz, Iran , Yahyaei, Mahin Department of Medical Genetics - Faculty of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Beiranvandi, Fatemeh Department of Medical Genetics - Faculty of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Amirfiroozy, Soheyla Department of Medical Genetics - Faculty of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Keramatipour, Mohammad Department of Medical Genetics - Faculty of Medicine - Tehran University of Medical Sciences, Tehran, Iran
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.
Keywords :
SNX10 , Osteopetrosis , Mutation , Iran
