A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss

A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss

Abstract Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss. Here, we investigate the genetic etiology of deafness in two GJB2 and GJB6 negative patient...

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Bibliographic Details
Main Authors: Hossein Fahimi, Samira Behroozi, Sadaf Noavar, Farshid Parvini
Format: Article
Language:English
Published: BMC 2021-02-01
Series:BMC Medical Genomics
Subjects:
ARNSHL
Targeted exome sequencing
PDZD7 gene
Missense mutation
Iran
Online Access:https://doi.org/10.1186/s12920-021-00884-4

Internet

https://doi.org/10.1186/s12920-021-00884-4

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