Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families. Issue 3 (1st June 2016)

• Record Type: Journal Article
• Authors: Lebeko, K.; Sloan‐Heggen, C. M.; Noubiap, J. J. N.; Dandara, C.; Kolbe, D. L.; Ephraim, S. S.; Booth, K. T.; Azaiez, H.; Santos‐Cortez, R. L. P.; Leal, S. M.; Smith, R. J. H.; Wonkam, A.
• Is Part Of: Clinical genetics. Volume 90:Issue 3(2016)
• Page Start: 288
• Page End: 290
• Publication Date: 2016-06-01
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12799
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract : In sub‐Saharan Africa GJB2 ‐related nonsyndromic hearing impairment (NSHI) is rare. Ten Cameroonian families was studied using a platform (OtoSCOPE®) with 116 genes. In seven of 10 families (70%), 12 pathogenic variants were identified in six genes. Five of the 12 (41.6%) variants are novel. These results confirm the efficiency of comprehensive genetic testing in defining the causes of NSHI in sub‐Saharan Africa.