Letter/Communication
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families
Clinical genetics, Vol.90(3), pp.288-290
09/2016
DOI: 10.1111/cge.12799
PMCID: PMC5324826
PMID: 27246798
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.
Details
- Title: Subtitle
- Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families
- Creators
- K Lebeko - Division of Human Genetics, Department of Pathology, Faculty of Health Sciences University of Cape Town, Cape Town, South AfricaC M Sloan-Heggen - Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USAJ J N Noubiap - Department of Medicine, Faculty of Health Sciences University of Cape Town, Cape Town, South AfricaC Dandara - Division of Human Genetics, Department of Pathology, Faculty of Health Sciences University of Cape Town, Cape Town, South AfricaD L Kolbe - Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USAS S Ephraim - Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USAK T Booth - Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USAH Azaiez - Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USAR L P Santos-Cortez - Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USAS M Leal - Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USAR J H Smith - Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USAA Wonkam - Department of Medicine, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa
- Resource Type
- Letter/Communication
- Publication Details
- Clinical genetics, Vol.90(3), pp.288-290
- DOI
- 10.1111/cge.12799
- PMID
- 27246798
- PMCID
- PMC5324826
- NLM abbreviation
- Clin Genet
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- Publisher
- Denmark
- Grant note
- R01 DC003594 / NIDCD NIH HHS R01 DC011651 / NIDCD NIH HHS R01 DC003544 / NIDCD NIH HHS R01 DC002842 / NIDCD NIH HHS T32 GM007337 / NIGMS NIH HHS
- Language
- English
- Date published
- 09/2016
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine; Iowa Institute of Human Genetics
- Record Identifier
- 9984006487002771
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