Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF
<h3>Background</h3><p dir="ltr">Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1–5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of...
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2020
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| Summary: | <h3>Background</h3><p dir="ltr">Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1–5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases.</p><h3>Methods</h3><p dir="ltr">In the current study, we reported a polygenic mode of inheritance in an NSHL consanguineous family using exome sequencing technology and we evaluated the possible effect of the detected single nucleotide variants (SNVs) using in silico methods.</p><h3>Results</h3><p dir="ltr">Two bi-allelic SNVs were detected in the affected patients; a<i> MYO15A</i> (. p.V<sub>4</sub>8<sub>5</sub>A) variant, and a novel <i>MITF</i> (p.P<sub>33</sub>8L) variant. Along with these homozygous mutations, we detected two heterozygous variants in well described hearing loss genes (<i>MYO</i><sub><em>7</em></sub>A and <i>MYH</i><sub>14</sub>). The novel MITF p. Pro<sub>33</sub>8Leu missense mutation was predicted to change the protein structure and function.</p><h3>Conclusion</h3><p dir="ltr">A novel <i>MITF</i> mutation along with a previously described <i>MYO</i><sub><em>15</em></sub><i>A</i> mutation segregate with an autosomal recessive non-syndromic HL case with a post-lingual onset. The findings highlight the importance of carrying whole exome sequencing for a comprehensive assessment of HL genetic heterogeneity.</p><h2>Other Information</h2><p dir="ltr">Published in: BMC Medical Genetics<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1186/s12881-019-0942-4" target="_blank">https://dx.doi.org/10.1186/s12881-019-0942-4</a></p> |
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