title: Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.
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.
authors.affiliation: Division of Human Genetics, Department of Pathology, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa.
authors.forename: K
authors.initials: K
authors.lastname: Lebeko
authors.affiliation: Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA.
authors.forename: C M
authors.initials: CM
authors.lastname: Sloan-Heggen
authors.affiliation: Department of Medicine, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa.
authors.forename: J J N
authors.initials: JJ
authors.lastname: Noubiap
authors.affiliation: Division of Human Genetics, Department of Pathology, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa.
authors.forename: C
authors.initials: C
authors.lastname: Dandara
authors.affiliation: Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA.
authors.forename: D L
authors.initials: DL
authors.lastname: Kolbe
authors.affiliation: Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA.
authors.forename: S S
authors.initials: SS
authors.lastname: Ephraim
authors.affiliation: Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA.
authors.forename: K T
authors.initials: KT
authors.lastname: Booth
authors.affiliation: Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA.
authors.forename: H
authors.initials: H
authors.lastname: Azaiez
authors.affiliation: Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: R L P
authors.initials: RL
authors.lastname: Santos-Cortez
authors.affiliation: Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: S M
authors.initials: SM
authors.lastname: Leal
authors.affiliation: Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA.
authors.forename: R J H
authors.initials: RJ
authors.lastname: Smith
authors.affiliation: Division of Human Genetics, Department of Pathology, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa.|Department of Medicine, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa.
authors.forename: A
authors.initials: A
authors.lastname: Wonkam
mesh_terms: D002163:Cameroon; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D023281:Genomics; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D017630:Connexins