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Wonkam, Ambroise; Adadey, Samuel Mawuli; Schrauwen, Isabelle; Aboagye, Elvis Twumasi; Wonkam-Tingang, Edmond; Esoh, Kevin; Popel, Kalinka; Manyisa, Noluthando; Jonas, Mario; deKock, Carmen; Nembaware, Victoria; Cornejo Sanchez, Diana M.; Bharadwaj, Thashi; Nasir, Abdul; Everard, Jenna L.; Kadlubowska, Magda K.; Nouel-Saied, Liz M.; Acharya, Anushree; Quaye, Osbourne; Amedofu, Geoffrey K.; Awandare, Gordon A.; Leal, Suzanne M.

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

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  • Medientyp: E-Artikel
  • Titel: Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes
  • Beteiligte: Wonkam, Ambroise; Adadey, Samuel Mawuli; Schrauwen, Isabelle; Aboagye, Elvis Twumasi; Wonkam-Tingang, Edmond; Esoh, Kevin; Popel, Kalinka; Manyisa, Noluthando; Jonas, Mario; deKock, Carmen; Nembaware, Victoria; Cornejo Sanchez, Diana M.; Bharadwaj, Thashi; Nasir, Abdul; Everard, Jenna L.; Kadlubowska, Magda K.; Nouel-Saied, Liz M.; Acharya, Anushree; Quaye, Osbourne; Amedofu, Geoffrey K.; Awandare, Gordon A.; Leal, Suzanne M.
  • Erschienen: Springer Science and Business Media LLC, 2022
  • Erschienen in: Communications Biology, 5 (2022) 1
  • Sprache: Englisch
  • DOI: 10.1038/s42003-022-03326-8
  • ISSN: 2399-3642
  • Schlagwörter: General Agricultural and Biological Sciences ; General Biochemistry, Genetics and Molecular Biology ; Medicine (miscellaneous)
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>We investigated hearing impairment (HI) in 51 families from Ghana with at least two affected members that were negative for<jats:italic>GJB2</jats:italic>pathogenic variants. DNA samples from 184 family members underwent whole-exome sequencing (WES). Variants were found in 14 known non-syndromic HI (NSHI) genes [26/51 (51.0%) families], five genes that can underlie either syndromic HI or NSHI [13/51 (25.5%)], and one syndromic HI gene [1/51 (2.0%)]. Variants in<jats:italic>CDH23</jats:italic>and<jats:italic>MYO15A</jats:italic>contributed the most to HI [31.4% (16/51 families)]. For<jats:italic>DSPP</jats:italic>, an autosomal recessive mode of inheritance was detected. Post-lingual expression was observed for a family segregating a<jats:italic>MARVELD2</jats:italic>variant. To our knowledge, seven novel candidate HI genes were identified (13.7%), with six associated with NSHI (<jats:italic>INPP4B</jats:italic>,<jats:italic>CCDC141, MYO19, DNAH11, POTEI</jats:italic>, and<jats:italic>SOX9</jats:italic>); and one (<jats:italic>PAX8</jats:italic>) with Waardenburg syndrome.<jats:italic>MYO19</jats:italic>and<jats:italic>DNAH11</jats:italic>were replicated in unrelated Ghanaian probands. Six of the novel genes were expressed in mouse inner ear. It is known that<jats:italic>Pax8</jats:italic><jats:sup><jats:italic>-/-</jats:italic></jats:sup>mice do not respond to sound, and depletion of Sox9 resulted in defective vestibular structures and abnormal utricle development. Most variants (48/60; 80.0%) have not previously been associated with HI. Identifying seven candidate genes in this study emphasizes the potential of novel HI genes discovery in Africa.</jats:p>
  • Zugangsstatus: Freier Zugang