GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C&gt;A mutation in Iran

Rodbaneh, Ehsan Abbaspour; Panahi, Mohammad Hossein; Rahimi, Bahareh; Mokabber, Haleh; Farajollahi, Reza; Davarnia, Behzad

doi:10.1002/jcla.24024

Cited by 7 publications

(1 citation statement)

References 40 publications

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“…The most common inheritance pattern is autosomal recessive non‐syndromic hearing loss (ARNSHL), with the proportion approximately 70%–80% of NSHL 6 . ARNSHL is a disease with a highly heterogeneous genetic background 7 . In Hereditary Hearing Loss Homepage, a total of 108 ARNSHL‐related loci have been summarized and 78 genes identified.…”

Section: Introductionmentioning

confidence: 99%

Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non‐syndromic hearing loss

Wang

Zhang

Xue

et al. 2022

Clinical Laboratory Analysis

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Background The most common inheritance pattern responsible for congenital deafness belongs to autosomal recessive non‐syndromic hearing loss (ARNSHL) and mutations of the highly heterogeneous MYO15A locus are present in a large proportion of cases. Methods One Chinese family with ARNSHL was subjected to clinical evaluation and genetic analysis. We used targeted and whole exome sequencing with Sanger sequencing to identify and characterize mutations. Bioinformatics analysis was conducted to evaluate molecular functions. Results Three compound heterozygous MYO15A gene variants, including two novel variants, c.6804G > A (p.M2268I), and c.6188_6190delinsGTCA (p.F2063Cfs*60), responsible for deafness were identified. Pathogenicity was assessed by multiple bioinformatics analyses. Conclusion We identified novel mutations of the MYO15A locus associated with ARNSHL in a Chinese family. The current findings expand the MYO15A pathogenic mutation spectrum to assist with genetic counseling and prenatal diagnosis.

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Section: Introductionmentioning

confidence: 99%