The genetic basis of deafness in populations of African descent

Jason R. Rudman; Rosemary I. Kabahuma; Sara E. Bressler; Yong Feng; Susan H. Blanton; Denise Yan; Xue-Zhong Liu

doi:10.1016/j.jgg.2017.03.008

Volume 44 Issue 6

Jun. 2017

Turn off MathJax

Article Contents

Article Navigation > Journal of Genetics and Genomics > 2017 > 44(6): 285-294

PDF( 332 KB)

The genetic basis of deafness in populations of African descent

doi: 10.1016/j.jgg.2017.03.008

a
Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
b
Department of Otorhinolaryngology, Steve Biko Academic Hospital, University of Pretoria, Pretoria 0001, South Africa
c
Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha 410008, China
d
Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
e
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA

More Information

Corresponding author: E-mail address: kabahumar2@gmail.com (Rosemary I. Kabahuma); E-mail address: x.liu1@med.miami.edu (Xue-Zhong Liu)
Received Date: 2016-12-20
Accepted Date: 2017-03-24
Rev Recd Date: 2017-02-03

Available Online: 2017-05-06

Publish Date: 2017-06-20

Abstract

Abstract

Hearing loss is the most common sensorineural disorder worldwide and is associated with more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 (gap-junction protein β 2) and GJB6 (gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing (NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation inMYO3a in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost- and time-effective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.
- Genetic,
- Hearing loss,
- Deafness,
- African

These two authors contributed equally to this work.

FullText(HTML)

References(56)

References

[1]	Abe, S., Usami, S., Shinkawa, H. et al. J. Med. Genet., 37 (2000),pp. 41-43
[2]	Adeoye, A.O. Goldenhar's syndrome: case report East Afr. Med. J., 79 (2002),pp. 502-504
[3]	Bademci, G., Cengiz, F.B., Foster Ii, J. et al. Variations in multiple syndromic deafness genes mimic non-syndromic hearing loss Sci. Rep., 6 (2016),p. 31622
[4]	Barruet, K., Saka, B., Kombate, K. et al. Keratitis-ichthyosis-deafness (KID) syndrome: an observation in a child in sub-Saharan Africa Ann. Dermatol. Venereol., 138 (2011),pp. 453-455
[5]	Batissoco, A.C., Abreu-Silva, R.S., Braga, M.C. et al. Ear Hear, 30 (2009),pp. 1-7
[6]	Beighton, P., Viljoen, D., Winship, I. et al. Profound childhood deafness in southern Afr. Ann. N. Y. Acad. Sci., 630 (1991),pp. 290-291
[7]	Bosch, J., Noubiap, J.J., Dandara, C. et al. OMICS, 18 (2014),pp. 705-710
[8]	Brobby, G.W., Muller-Myhsok, B., Horstmann, R.D. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa N. Engl. J. Med., 338 (1998),pp. 548-550
[9]	Chan, D.K., Chang, K.W. Laryngoscope, 124 (2014),pp. E34-E53
[10]	Dai, P., Yu, F., Han, B. et al. J. Transl. Med., 7 (2009),p. 26
[11]	Del Castillo, I., Moreno-Pelayo, M.A., Del Castillo, F.J. et al. Am. J. Hum. Genet., 73 (2003),pp. 1452-1458
[12]	Estivill, X., Fortina, P., Surrey, S. et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness Lancet, 351 (1998),pp. 394-398
[13]	Friderichs, N., Swanepoel, D., Efficacy of a community-based infant hearing screening program utilizing existing clinic personnel in Western Cape, South Africa Int. J. Pediatr. Otorhinolaryngol., 76 (2012),pp. 552-559
[14]	Gardner, J.C., Goliath, R., Viljoen, D. et al. Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder J. Med. Genet., 34 (1997),pp. 904-906
[15]	Gasmelseed, N.M., Schmidt, M., Magzoub, M.M. et al. Hum. Mutat., 23 (2004),pp. 206-207
[16]	Gasparini, P., Estivill, X., Volpini, V. et al. Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families Eur. J. Hum. Genet., 5 (1997),pp. 83-88
[17]	Gasparini, P., Rabionet, R., Barbujani, G. et al. Eur. J. Hum. Genet., 8 (2000),pp. 19-23
[18]	Grati, M., Yan, D., Raval, M.H. et al. Hum. Mutat., 37 (2016),pp. 481-487
[19]	Hamelmann, C., Amedofu, G.K., Albrecht, K. et al. Hum. Mutat., 18 (2001),pp. 84-85
[20]	Henn, B.M., Botigue, L.R., Gravel, S. et al. Genomic ancestry of North Africans supports back-to-Africa migrations PLoS Genet., 8 (2012),p. e1002397
[21]	Human, H., Hagen, C.M., de Jong, G. et al. Investigation of mitochondrial sequence variants associated with aminoglycoside-induced ototoxicity in South African TB patients on aminoglycosides Biochem. Biophys. Res. Commun., 393 (2010),pp. 751-756
[22]	Idan, N., Brownstein, Z., Shivatzki, S. et al. Advances in genetic diagnostics for hereditary hearing loss J. Basic Clin. Physiol. Pharmacol., 24 (2013),pp. 165-170
[23]	Javidnia, H., Carson, N., Awubwa, M. et al. Connexin gene mutations among Ugandan patients with nonsyndromic sensorineural hearing loss Laryngoscope, 124 (2014),pp. E373-E376
[24]	Jonard, L., Feldmann, D., Parsy, C. et al. Eur. J. Med. Genet., 51 (2008),pp. 35-43
[25]	Kabahuma, R.I., Ouyang, X., Du, L.L. et al. Int. J. Pediatr. Otorhinolaryngol., 75 (2011),pp. 611-617
[26]	Keats, B.J., Berlin, C.I. Genomics and hearing impairment Genome Res., 9 (1999),pp. 7-16
[27]	Kelley, P.M., Harris, D.J., Comer, B.C. et al. Am. J. Hum. Genet., 62 (1998),pp. 792-799
[28]	Kelsell, D.P., Dunlop, J., Stevens, H.P. et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness Nature, 387 (1997),pp. 80-83
[29]	Kombate, K., Saka, B., Landoh, D.E. et al. Keratitis-Ichthyosis-Deafness syndrome (KID) in a Togolese child born from a consanguineous marriage Pan Afr. Med. J., 21 (2015),p. 266
[30]	Lasisi, A.O., Bademci, G., , Blanton, S. et al. Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria Int. J. Pediatr. Otorhinolaryngol., 78 (2014),pp. 1870-1873
[31]	le Roux, T., Swanepoel de, W., Louw, A. et al. Profound childhood hearing loss in a South Africa cohort: risk profile, diagnosis and age of intervention Int. J. Pediatr. Otorhinolaryngol., 79 (2015),pp. 8-14
[32]	Lebeko, K., Bosch, J., Noubiap, J.J. et al. Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward Pan Afr. Med. J., 20 (2015),p. 383
[33]	Levin, S.E., Klugman, L.H. Pendred's syndrome in South African Bantu brothers S. Afr. Med. J., 40 (1966),pp. 759-760
[34]	Massoure, P.L., Latremouille, C., Lamblin, G. et al. LEOPARD syndrome Cardiovasc. J. Afr., 23 (2012),pp. e19-20
[35]	McPherson, B., Holborow, C.A. A study of deafness in west Africa: the gambian hearing health project Int. J. Pediatr. Otorhinolaryngol., 10 (1985),pp. 115-135
[36]	McPherson, B., Swart, S.M. Childhood hearing loss in sub-Saharan Africa: a review and recommendations Int. J. Pediatr. Otorhinolaryngol., 40 (1997),pp. 1-18
[37]	Morell, R.J., Kim, H.J., Hood, L.J. et al. N. Engl. J. Med., 339 (1998),pp. 1500-1505
[38]	Mustapha, M., Salem, N., Delague, V. et al. J. Med. Genet., 38 (2001),p. E36
[39]	Naidoo, L.C., Stephen, L.X. Congenital ameloblastic fibroma in association with oculoauriculovertebral spectrum Int. J. Pediatr. Otorhinolaryngol., 43 (1998),pp. 283-288
[40]	Noubiap, J.-J.N., Djomou, F., Njock, R. et al. Waardenburg syndrome in childhood deafness in Cameroon S. Afr. J. Child. Health, 8 (2014),pp. 3-5
[41]	Oliveira, C.A., Alexandrino, F., Abe-Sandes, K. et al. Hum. Biol., 76 (2004),pp. 313-316
[42]	Pandya, A., Arnos, K.S., Xia, X.J. et al. Genet. Med., 5 (2003),pp. 295-303
[43]	Park, H.J., Hahn, S.H., Chun, Y.M. et al. Connexin26 mutations associated with nonsyndromic hearing loss Laryngoscope, 110 (2000),pp. 1535-1538
[44]	Roberts, L., George, S., Greenberg, J. et al. Invest. Ophthalmol. Vis. Sci., 56 (2015),pp. 6671-6678
[45]	Samanich, J., Lowes, C., Burk, R. et al. Am. J. Med. Genet. A, 143A (2007),pp. 830-838
[46]	Sellars, S., Beighton, G., Horan, F. et al. Deafness in Black children is Southern Africa S. Afr. Med. J., 51 (1977),pp. 309-312
[47]	Sellars, S., Beighton, P. The Waardenburg syndrome in deaf children in southern Africa S. Afr. Med. J., 63 (1983),pp. 725-728
[48]	Shearer, A.E., Black-Ziegelbein, E.A., Hildebrand, M.S. et al. Advancing genetic testing for deafness with genomic technology J. Med. Genet., 50 (2013),pp. 627-634
[49]	Trotta, L., Iacona, E., Primignani, P. et al. Int. J. Audiol., 50 (2011),pp. 133-138
[50]	Van Camp, G., Willems, P.J., Smith, R.J. Nonsyndromic hearing impairment: unparalleled heterogeneity Am. J. Hum. Genet., 60 (1997),pp. 758-764
[51]	van der Walt, E.M., Smuts, I., Taylor, R.W. et al. Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease Eur. J. Hum. Genet., 20 (2012),pp. 650-656
[52]	Wonkam, A., Bosch, J., Noubiap, J.J. et al. S. Afr. Med. J., 105 (2015),pp. 23-26
[53]	Wonkam, A., Noubiap, J.J., Djomou, F. et al. Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa) Eur. J. Med.Genet., 56 (2013),pp. 20-25
[54]	Yan, D., Park, H.J., Ouyang, X.M. et al. Hum. Genet., 114 (2003),pp. 44-50
[55]	Yan, D., Tekin, D., Bademci, G. et al. Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents Hum. Genet., 135 (2016),pp. 953-961
[56]	Zelante, L., Gasparini, P., Estivill, X. et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans Hum. Mol. Genet., 6 (1997),pp. 1605-1609