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Adeyemo, Adebolajo; Faridi, Rabia; Chattaraj, Parna; Yousaf, Rizwan; Tona, Risa; Okorie, Samuel; Bharadwaj, Thashi; Nouel-Saied, Liz M.; Acharya, Anushree; Schrauwen, Isabelle; Morell, Robert J.; Leal, Suzanne M.; Friedman, Thomas B.; Griffith, Andrew J.; Roux, Isabelle

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

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  • Medientyp: E-Artikel
  • Titel: Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria
  • Beteiligte: Adeyemo, Adebolajo; Faridi, Rabia; Chattaraj, Parna; Yousaf, Rizwan; Tona, Risa; Okorie, Samuel; Bharadwaj, Thashi; Nouel-Saied, Liz M.; Acharya, Anushree; Schrauwen, Isabelle; Morell, Robert J.; Leal, Suzanne M.; Friedman, Thomas B.; Griffith, Andrew J.; Roux, Isabelle
  • Erschienen: Springer Science and Business Media LLC, 2022
  • Erschienen in: European Journal of Human Genetics
  • Sprache: Englisch
  • DOI: 10.1038/s41431-021-00984-w
  • ISSN: 1018-4813; 1476-5438
  • Schlagwörter: Genetics (clinical) ; Genetics
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Although variant alleles of hundreds of genes are associated with sensorineural deafness in children, the genes and alleles involved remain largely unknown in the Sub-Saharan regions of Africa. We ascertained 56 small families mainly of Yoruba ethno-lingual ancestry in or near Ibadan, Nigeria, that had at least one individual with nonsyndromic, severe-to-profound, prelingual-onset, bilateral hearing loss not attributed to nongenetic factors. We performed a combination of exome and Sanger sequencing analyses to evaluate both nuclear and mitochondrial genomes. No biallelic pathogenic variants were identified in <jats:italic>GJB2</jats:italic>, a common cause of deafness in many populations. Potential causative variants were identified in genes associated with nonsyndromic hearing loss (<jats:italic>CIB2, COL11A1</jats:italic>, <jats:italic>ILDR1</jats:italic>, <jats:italic>MYO15A</jats:italic>, <jats:italic>TMPRSS3</jats:italic>, and <jats:italic>WFS1</jats:italic>), nonsyndromic hearing loss or Usher syndrome (<jats:italic>CDH23</jats:italic>, <jats:italic>MYO7A</jats:italic>, <jats:italic>PCDH15</jats:italic>, and <jats:italic>USH2A</jats:italic>), and other syndromic forms of hearing loss (<jats:italic>CHD7</jats:italic>, <jats:italic>OPA1</jats:italic>, and <jats:italic>SPTLC1</jats:italic>). Several rare mitochondrial variants, including m.1555A&gt;G, were detected in the gene <jats:italic>MT-RNR1</jats:italic> but not in control Yoruba samples. Overall, 20 (33%) of 60 independent cases of hearing loss in this cohort of families were associated with likely causal variants in genes reported to underlie deafness in other populations. None of these likely causal variants were present in more than one family, most were detected as compound heterozygotes, and 77% had not been previously associated with hearing loss. These results indicate an unusually high level of genetic heterogeneity of hearing loss in Ibadan, Nigeria and point to challenges for molecular genetic screening, counseling, and early intervention in this population.</jats:p>
  • Zugangsstatus: Freier Zugang