Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families

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 re...

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Bibliographic Details
Published in:Clinical genetics 2016-09, Vol.90 (3), p.288-290
Main 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.
Format: Article
Language:English
Subjects:
Cameroon
Connexins - genetics
Deafness - genetics
Deafness - physiopathology
Female
Genetic disorders
Genomics
Genotype
Hearing loss
High-Throughput Nucleotide Sequencing
Humans
Male
Mutation
Pathogens
Pedigree
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12799