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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| _version_ | 1864513511257800704 |
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| author | Athar Khalil (5906330) |
| author2 | Samer Bou Karroum (19022876) Rana Barake (7962539) Gabriel Dunya (8213655) Samer Abou-Rizk (8213658) Amina Kamar (295977) Georges Nemer (295984) Marc Bassim (7962545) |
| author2_role | author author author author author author author |
| author_facet | Athar Khalil (5906330) Samer Bou Karroum (19022876) Rana Barake (7962539) Gabriel Dunya (8213655) Samer Abou-Rizk (8213658) Amina Kamar (295977) Georges Nemer (295984) Marc Bassim (7962545) |
| author_role | author |
| dc.creator.none.fl_str_mv | Athar Khalil (5906330) Samer Bou Karroum (19022876) Rana Barake (7962539) Gabriel Dunya (8213655) Samer Abou-Rizk (8213658) Amina Kamar (295977) Georges Nemer (295984) Marc Bassim (7962545) |
| dc.date.none.fl_str_mv | 2020-01-02T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1186/s12881-019-0942-4 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Post-lingual_non-syndromic_hearing_loss_phenotype_a_polygenic_case_with_2_biallelic_mutations_in_MYO15A_and_MITF/26232455 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Congenital hearing loss Non-syndromic hearing loss MITF MYO15A Whole exome sequencing |
| dc.title.none.fl_str_mv | Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <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> |
| eu_rights_str_mv | openAccess |
| id | Manara2_d10bc08c36133a4d038930f2be0958c4 |
| identifier_str_mv | 10.1186/s12881-019-0942-4 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/26232455 |
| publishDate | 2020 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITFAthar Khalil (5906330)Samer Bou Karroum (19022876)Rana Barake (7962539)Gabriel Dunya (8213655)Samer Abou-Rizk (8213658)Amina Kamar (295977)Georges Nemer (295984)Marc Bassim (7962545)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesCongenital hearing lossNon-syndromic hearing lossMITFMYO15AWhole exome sequencing<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>2020-01-02T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1186/s12881-019-0942-4https://figshare.com/articles/journal_contribution/Post-lingual_non-syndromic_hearing_loss_phenotype_a_polygenic_case_with_2_biallelic_mutations_in_MYO15A_and_MITF/26232455CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/262324552020-01-02T03:00:00Z |
| spellingShingle | Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF Athar Khalil (5906330) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Congenital hearing loss Non-syndromic hearing loss MITF MYO15A Whole exome sequencing |
| status_str | publishedVersion |
| title | Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF |
| title_full | Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF |
| title_fullStr | Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF |
| title_full_unstemmed | Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF |
| title_short | Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF |
| title_sort | Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Congenital hearing loss Non-syndromic hearing loss MITF MYO15A Whole exome sequencing |