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Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population
Open AccessArticle

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon

1
Department of Pathology, Division of Human Genetics, University of Cape Town, Cape Town 7925, South Africa
2
Department of Medicine, University of Cape Town, 7925 Cape Town, South Africa
3
Department of Biochemistry, Cell and Molecular Biology, West African Centre for Cell Biology of Infectious Pathogens, College of Basic and Applied Sciences, University of Ghana, Accra 00233, Ghana
4
Department of Surgery, ENT unit, Bertoua Regional Hospital, P.O. Box 40 Bertoua, Cameroon
*
Author to whom correspondence should be addressed.
Genes 2019, 10(11), 844; https://doi.org/10.3390/genes10110844
Received: 16 September 2019 / Revised: 7 October 2019 / Accepted: 23 October 2019 / Published: 25 October 2019
(This article belongs to the Special Issue Genetic Epidemiology of Deafness)
This study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations associated with familial non-syndromic childhood hearing impairment (HI) in Cameroon. We selected only families segregating HI, with at least two affected individuals and with strong evidence of non-environmental causes. DNA was extracted from peripheral blood, and the entire coding region of GJB2 was interrogated using Sanger sequencing. Multiplex PCR and Sanger sequencing were used to analyze the prevalence of the GJB6-D3S1830 deletion. A total of 93 patients, belonging to 41 families, were included in the analysis. Hearing impairment was sensorineural in 51 out of 54 (94.4%) patients. Pedigree analysis suggested autosomal recessive inheritance in 85.4% (35/41) of families. Hearing impairment was inherited in an autosomal dominant and mitochondrial mode in 12.2% (5/41) and 2.4% (1/41) of families, respectively. Most HI participants were non-syndromic (92.5%; 86/93). Four patients from two families presented with type 2 Waardenburg syndrome, and three cases of type 2 Usher syndrome were identified in one family. No GJB2 mutations were found in any of the 29 families with non-syndromic HI. Additionally, the GJB6-D3S1830 deletion was not identified in any of the HI patients. This study confirms that mutations in the GJB2 gene and the del(GJB6-D13S1830) mutation do not contribute to familial HI in Cameroon. View Full-Text
Keywords: hearing impairment; genetics; GJB2 and GJB6; Cameroon; Africa hearing impairment; genetics; GJB2 and GJB6; Cameroon; Africa
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Tingang Wonkam, E.; Chimusa, E.; Noubiap, J.J.; Adadey, S.M.; F. Fokouo, J.V.; Wonkam, A. GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon. Genes 2019, 10, 844.

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