<i>GJB2</i> and <i>GJB6</i> Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon
This study aimed to investigate <i>GJB2</i> (connexin 26) and <i>GJB6</i> (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 st...
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doaj-9d1771b1b3d0480c93afa89a52ec5cdf2020-11-25T02:42:44ZengMDPI AGGenes2073-44252019-10-01101184410.3390/genes10110844genes10110844<i>GJB2</i> and <i>GJB6</i> Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in CameroonEdmond Tingang Wonkam0Emile Chimusa1Jean Jacques Noubiap2Samuel Mawuli Adadey3Jean Valentin F. Fokouo4Ambroise Wonkam5Department of Pathology, Division of Human Genetics, University of Cape Town, Cape Town 7925, South AfricaDepartment of Pathology, Division of Human Genetics, University of Cape Town, Cape Town 7925, South AfricaDepartment of Medicine, University of Cape Town, 7925 Cape Town, South AfricaDepartment of Pathology, Division of Human Genetics, University of Cape Town, Cape Town 7925, South AfricaDepartment of Surgery, ENT unit, Bertoua Regional Hospital, P.O. Box 40 Bertoua, CameroonDepartment of Pathology, Division of Human Genetics, University of Cape Town, Cape Town 7925, South AfricaThis study aimed to investigate <i>GJB2</i> (connexin 26) and <i>GJB6</i> (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 <i>GJB2</i> was interrogated using Sanger sequencing. Multiplex PCR and Sanger sequencing were used to analyze the prevalence of the <i>GJB6</i>-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 <i>GJB2</i> mutations were found in any of the 29 families with non-syndromic HI. Additionally, the <i>GJB6</i>-D3S1830 deletion was not identified in any of the HI patients. This study confirms that mutations in the <i>GJB2</i> gene and the del(<i>GJB6</i>-D13S1830) mutation do not contribute to familial HI in Cameroon.https://www.mdpi.com/2073-4425/10/11/844hearing impairmentgenetics<i>gjb2</i> and <i>gjb6</i>cameroonafrica |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Edmond Tingang Wonkam Emile Chimusa Jean Jacques Noubiap Samuel Mawuli Adadey Jean Valentin F. Fokouo Ambroise Wonkam |
spellingShingle |
Edmond Tingang Wonkam Emile Chimusa Jean Jacques Noubiap Samuel Mawuli Adadey Jean Valentin F. Fokouo Ambroise Wonkam <i>GJB2</i> and <i>GJB6</i> Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon Genes hearing impairment genetics <i>gjb2</i> and <i>gjb6</i> cameroon africa |
author_facet |
Edmond Tingang Wonkam Emile Chimusa Jean Jacques Noubiap Samuel Mawuli Adadey Jean Valentin F. Fokouo Ambroise Wonkam |
author_sort |
Edmond Tingang Wonkam |
title |
<i>GJB2</i> and <i>GJB6</i> Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon |
title_short |
<i>GJB2</i> and <i>GJB6</i> Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon |
title_full |
<i>GJB2</i> and <i>GJB6</i> Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon |
title_fullStr |
<i>GJB2</i> and <i>GJB6</i> Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon |
title_full_unstemmed |
<i>GJB2</i> and <i>GJB6</i> Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon |
title_sort |
<i>gjb2</i> and <i>gjb6</i> mutations in hereditary recessive non-syndromic hearing impairment in cameroon |
publisher |
MDPI AG |
series |
Genes |
issn |
2073-4425 |
publishDate |
2019-10-01 |
description |
This study aimed to investigate <i>GJB2</i> (connexin 26) and <i>GJB6</i> (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 <i>GJB2</i> was interrogated using Sanger sequencing. Multiplex PCR and Sanger sequencing were used to analyze the prevalence of the <i>GJB6</i>-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 <i>GJB2</i> mutations were found in any of the 29 families with non-syndromic HI. Additionally, the <i>GJB6</i>-D3S1830 deletion was not identified in any of the HI patients. This study confirms that mutations in the <i>GJB2</i> gene and the del(<i>GJB6</i>-D13S1830) mutation do not contribute to familial HI in Cameroon. |
topic |
hearing impairment genetics <i>gjb2</i> and <i>gjb6</i> cameroon africa |
url |
https://www.mdpi.com/2073-4425/10/11/844 |
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