Identification of a Novel Stop Loss Mutation in P2rx2 Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss

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Identification of a Novel Stop Loss Mutation in P2rx2 Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss Publisher Pubmed

Malamiri RA¹ ; Asl JM² ; Ghanbari F³

Source: Iranian Biomedical Journal Published:2021

Abstract

Background: Hearing loss, a congenital genetic disorder in human, is difficult to diagnose. WES is a powerful approach for ethiological disgnosis of such disorders. Methods: One Iranian family with two patients were attented in the study. Sequencing of known NSHL genes was carried out to recognize the genetic causes of HL. Results: Molecular analyses identified a novel stop loss mutation, c.1048T>G (p.Term350Glu), whitin the P2RX2 gene, causing a termination-site modification.This event would lead to continued translation into the 3' UTR of the gene, which in turn may result in a longer protein product. The mutation was segregating with the disease phenotype and predicted to be pathogenic by bioinformatic tools. Conclusion: This study is the first Iranian case report of a diagnosis of ADNSHL caused by P2RX2 mutation. The recognition of other causative mutations in P2RX2 gene more supports the probable function of this gene in causing ADNSHL. DOI: 10.52547/ibj.25.5.368. © 2021, Pasteur Institute of Iran. All rights reserved.

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Style	Citing Format
MLA	Malamiri RA, Asl JM, Ghanbari F. "Identification of a Novel Stop Loss Mutation in P2rx2 Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss." Iranian Biomedical Journal, vol. 25, no. 5, 2021, pp. 368-373.
APA	Malamiri RA, Asl JM, Ghanbari F (2021). Identification of a Novel Stop Loss Mutation in P2rx2 Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss. Iranian Biomedical Journal, 25(5), 368-373.
Chicago	Malamiri RA, Asl JM, Ghanbari F. "Identification of a Novel Stop Loss Mutation in P2rx2 Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss." Iranian Biomedical Journal 25, no. 5 (2021): 368-373.
Harvard	Malamiri RA, Asl JM, Ghanbari F (2021) 'Identification of a Novel Stop Loss Mutation in P2rx2 Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss', Iranian Biomedical Journal, 25(5), pp. 368-373.
Vancouver	Malamiri RA, Asl JM, Ghanbari F. Identification of a Novel Stop Loss Mutation in P2rx2 Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss. Iranian Biomedical Journal. 2021;25(5):368-373.
BibTex	@article{ author = {Malamiri RA and Asl JM and Ghanbari F}, title = {Identification of a Novel Stop Loss Mutation in P2rx2 Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss}, journal = {Iranian Biomedical Journal}, volume = {25}, number = {5}, pages = {368-373}, year = {2021} }
RIS	TY - JOUR AU - Malamiri RA AU - Asl JM AU - Ghanbari F TI - Identification of a Novel Stop Loss Mutation in P2rx2 Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss JO - Iranian Biomedical Journal VL - 25 IS - 5 SP - 368 EP - 373 PY - 2021 ER -

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