Abstract
The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B). Here, we report the results of genetic analyses performed on Moroccan families with autosomal recessive non syndromic hearing loss that identified two families with compound heterozygous MYO7A mutations. Five mutations (c.6025delG, c.6229T>A, c.3500T>A, c.5617C>T and c.4487C>A) were identified in these families, the latter presenting two differently affected branches. Multiple bioinformatics programs and molecular modelling predicted the pathogenic effect of these mutations. In conclusion, the absence of vestibular and retinal symptom in the affected patients suggests that these families have the isolated non-syndromic hearing loss DFNB2 (nonsyndromic autosomal recessive hearing loss) presentation, instead of USH1B.
Highlights
Sensorineural hearing loss (SNHL) is the most prevalent human genetic sensory defect
We report the clinical, genetic and molecular characterization of two Moroccan families with Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL), disclosing the 7th and 8th DFNB2 families described to date
We performed whole-exome sequencing on a Moroccan family with autosomal recessive, non-syndromic hearing loss (ARNSHL), which did not show mutation in the most common genes involved in the Moroccan deaf population, like GJB2 [30], LRTOMT2 [31], TBC1D24 [32] and TMC1 [33]
Summary
Sensorineural hearing loss (SNHL) is the most prevalent human genetic sensory defect. Hereditary hearing loss is divided into two groups, syndromic and non-syndromic. Over 150 genes responsible for hearing loss have been identified, among which 70 are implicated in the non-syndromic hearing loss, whereas the others lead to syndromic presentations [2]. The human MYO7A gene contains 49 coding exons [4] and is expressed in the retina, lung, testis, kidney, and outer and inner hair cells of the cochlea [5]. In the latter, MYO7A is found in the actin-rich stereocilia bundles, cuticular plate, pericuticular necklace, and cell body [5].
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