Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss

ABSTRACT:

Background

Hearing loss, a congenital genetic disorder in human, is difficult to diagnose. Whole exome sequencing 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 non-syndromic hearing loss 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

SUBMITTER: Azizi Malamiri R 

PROVIDER: S-EPMC8487680 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature