Literature DB >> 27246798

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

K Lebeko1, C M Sloan-Heggen2, J J N Noubiap3, C Dandara1, D L Kolbe2, S S Ephraim2, K T Booth2, H Azaiez2, R L P Santos-Cortez4, S M Leal4, R J H Smith2, A Wonkam1,3.   

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.
© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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Year:  2016        PMID： 27246798      PMCID： PMC5324826          DOI： 10.1111/cge.12799

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  11 in total

1.  Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Authors:  A Eliot Shearer; Adam P DeLuca; Michael S Hildebrand; Kyle R Taylor; José Gurrola; Steve Scherer; Todd E Scheetz; Richard J H Smith
Journal:  Proc Natl Acad Sci U S A       Date:  2010-11-15       Impact factor: 11.205

2.  OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

Authors:  S Yasunaga; M Grati; S Chardenoux; T N Smith; T B Friedman; A K Lalwani; E R Wilcox; C Petit
Journal:  Am J Hum Genet       Date:  2000-07-19       Impact factor: 11.025

3.  Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Authors:  Xiao Mei Ouyang; Denise Yan; Li Lin Du; J Fielding Hejtmancik; Samuel G Jacobson; Walter E Nance; An Ren Li; Simon Angeli; Muriel Kaiser; Valerie Newton; Steve D M Brown; Thomas Balkany; Xue Zhong Liu
Journal:  Hum Genet       Date:  2005-01-20       Impact factor: 4.132

4.  Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

Authors:  A-F Roux; V Faugère; S Le Guédard; N Pallares-Ruiz; A Vielle; S Chambert; S Marlin; C Hamel; B Gilbert; S Malcolm; M Claustres
Journal:  J Med Genet       Date:  2006-05-05       Impact factor: 6.318

5.  Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans.

Authors:  Jason Bosch; Jean Jacques N Noubiap; Collet Dandara; Nomlindo Makubalo; Galen Wright; Jean-Baka Domelevo Entfellner; Nicki Tiffin; Ambroise Wonkam
Journal:  OMICS       Date:  2014-08-27

6.  Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa).

Authors:  Ambroise Wonkam; Jean Jacques N Noubiap; François Djomou; Karen Fieggen; Richard Njock; Geneviève Bengono Toure
Journal:  Eur J Med Genet       Date:  2012-10-17       Impact factor: 2.708

7.  Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Authors:  Christina M Sloan-Heggen; Amanda O Bierer; A Eliot Shearer; Diana L Kolbe; Carla J Nishimura; Kathy L Frees; Sean S Ephraim; Seiji B Shibata; Kevin T Booth; Colleen A Campbell; Paul T Ranum; Amy E Weaver; E Ann Black-Ziegelbein; Donghong Wang; Hela Azaiez; Richard J H Smith
Journal:  Hum Genet       Date:  2016-03-11       Impact factor: 4.132

8.  Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

Authors:  Yongyi Yuan; Weiwei Guo; Jie Tang; Guozheng Zhang; Guojian Wang; Mingyu Han; Xun Zhang; Shiming Yang; David Z Z He; Pu Dai
Journal:  PLoS One       Date:  2012-11-21       Impact factor: 3.240

9.  Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.

Authors:  Yi Jiang; Shasha Huang; Tao Deng; Lihua Wu; Juan Chen; Dongyang Kang; Xiufeng Xu; Ruiyu Li; Dongyi Han; Pu Dai
Journal:  PLoS One       Date:  2015-08-07       Impact factor: 3.240

10.  Copy number variants are a common cause of non-syndromic hearing loss.

Authors:  A Eliot Shearer; Diana L Kolbe; Hela Azaiez; Christina M Sloan; Kathy L Frees; Amy E Weaver; Erika T Clark; Carla J Nishimura; E Ann Black-Ziegelbein; Richard J H Smith
Journal:  Genome Med       Date:  2014-05-22       Impact factor: 11.117
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  23 in total

Review 1.  African genetic diversity and adaptation inform a precision medicine agenda.

Authors:  Luisa Pereira; Leon Mutesa; Paulina Tindana; Michèle Ramsay
Journal:  Nat Rev Genet       Date:  2021-01-11       Impact factor: 53.242

Review 2.  The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis.

Authors:  Tianni Xu; Wei Zhu; Ping Wang
Journal:  Eur Arch Otorhinolaryngol       Date:  2018-10-26       Impact factor: 2.503

3.  Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis.

Authors:  Abdullah A Gibriel; Maha H Abou-Elew; Saber Masmoudi
Journal:  Mol Biol Rep       Date:  2019-02-07       Impact factor: 2.316

4.  Perceptions of parents of children with hearing loss of genetic origin in South Africa.

Authors:  Sinead Amber Gardiner; Nakita Laing; Sumaya Mall; Ambroise Wonkam
Journal:  J Community Genet       Date:  2018-11-21

Review 5.  Navigating genetic diagnostics in patients with hearing loss.

Authors:  Christina M Sloan-Heggen; Richard J H Smith
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

6.  Including diverse and admixed populations in genetic epidemiology research.

Authors:  Amke Caliebe; Fasil Tekola-Ayele; Burcu F Darst; Xuexia Wang; Yeunjoo E Song; Jiang Gui; Ronnie A Sebro; David J Balding; Mohamad Saad; Marie-Pierre Dubé
Journal:  Genet Epidemiol       Date:  2022-07-16       Impact factor: 2.344

7.  Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon.

Authors:  Ambroise Wonkam; Kamogelo Lebeko; Shaheen Mowla; Jean Jacques Noubiap; Mike Chong; Guillaume Pare
Journal:  Mol Genet Genomic Med       Date:  2021-02-02       Impact factor: 2.473

8.  Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review.

Authors:  Noluthando Manyisa; Samuel Mawuli Adadey; Edmond Wonkam-Tingang; Abdoulaye Yalcouye; Ambroise Wonkam
Journal:  OMICS       Date:  2022-01

9.  A Genomic and Protein-Protein Interaction Analyses of Nonsyndromic Hearing Impairment in Cameroon Using Targeted Genomic Enrichment and Massively Parallel Sequencing.

Authors:  Kamogelo Lebeko; Noluthando Manyisa; Emile R Chimusa; Nicola Mulder; Collet Dandara; Ambroise Wonkam
Journal:  OMICS       Date:  2017-01-11

10.  A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.

Authors:  Edmond Wonkam-Tingang; Isabelle Schrauwen; Kevin K Esoh; Thashi Bharadwaj; Liz M Nouel-Saied; Anushree Acharya; Abdul Nasir; Suzanne M Leal; Ambroise Wonkam
Journal:  Exp Biol Med (Maywood)       Date:  2021-03-09
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