CASE REPORT: A NOVEL MUTATION IN SNX10 GENE CAUSES MALIGNANT INFANTILE OSTEOPETROSIS

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AMIRFIROUZI AKBAR; HAMIDIEH AMIR A.; GOLCHEHRE ZAHRA; REZAMAND AZIM; YAHYAEI MAHIN; BEIRANVANDI FATEMEH; AMIRFIROOZY SOHEYLA; KERAMATIPOUR MOHAMMAD

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Journal: Avicenna Journal of Medical Biotechnology Year:2017 | Volume:9 | Issue:4 Page(s): 205-208

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Title

CASE REPORT: A NOVEL MUTATION IN SNX10 GENE CAUSES MALIGNANT INFANTILE OSTEOPETROSIS

Author(s)

Keywords

IRAN

MUTATION

OSTEOPETROSIS

SNX10

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.

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APA: Copy

AMIRFIROUZI, AKBAR, HAMIDIEH, AMIR A., GOLCHEHRE, ZAHRA, REZAMAND, AZIM, YAHYAEI, MAHIN, BEIRANVANDI, FATEMEH, AMIRFIROOZY, SOHEYLA, & KERAMATIPOUR, MOHAMMAD. (2017). CASE REPORT: A NOVEL MUTATION IN SNX10 GENE CAUSES MALIGNANT INFANTILE OSTEOPETROSIS. AVICENNA JOURNAL OF MEDICAL BIOTECHNOLOGY (AJMB), 9(4), 205-208. SID. https://sid.ir/paper/313973/en

Vancouver: Copy

AMIRFIROUZI AKBAR, HAMIDIEH AMIR A., GOLCHEHRE ZAHRA, REZAMAND AZIM, YAHYAEI MAHIN, BEIRANVANDI FATEMEH, AMIRFIROOZY SOHEYLA, KERAMATIPOUR MOHAMMAD. CASE REPORT: A NOVEL MUTATION IN SNX10 GENE CAUSES MALIGNANT INFANTILE OSTEOPETROSIS. AVICENNA JOURNAL OF MEDICAL BIOTECHNOLOGY (AJMB)[Internet]. 2017;9(4):205-208. Available from: https://sid.ir/paper/313973/en

IEEE: Copy

AKBAR AMIRFIROUZI, AMIR A. HAMIDIEH, ZAHRA GOLCHEHRE, AZIM REZAMAND, MAHIN YAHYAEI, FATEMEH BEIRANVANDI, SOHEYLA AMIRFIROOZY, and MOHAMMAD KERAMATIPOUR, “CASE REPORT: A NOVEL MUTATION IN SNX10 GENE CAUSES MALIGNANT INFANTILE OSTEOPETROSIS,” AVICENNA JOURNAL OF MEDICAL BIOTECHNOLOGY (AJMB), vol. 9, no. 4, pp. 205–208, 2017, [Online]. Available: https://sid.ir/paper/313973/en

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