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Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families
Author(s) -
Lebeko K.,
SloanHeggen C. M.,
Noubiap J. J. N.,
Dandara C.,
Kolbe D. L.,
Ephraim S. S.,
Booth K. T.,
Azaiez H.,
SantosCortez R. L. P.,
Leal S. M.,
Smith R. J. H.,
Wonkam A.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12799
Subject(s) - massive parallel sequencing , genetics , biology , gene , hearing loss , dna sequencing , audiology , medicine
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.