Profound Childhood Deafness in Southern Africa

Beighton, Peter; Viljoen, Denis; Winship, Ingrid; Beighton, Greta; Sellars, S. L.

doi:10.1111/j.1749-6632.1991.tb19608.x

Cited by 6 publications

(4 citation statements)

References 1 publication

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“…Waardenburg syndrome is a group of genetic conditions that cause pigmentation changes in the hair, skin, and eyes, and has been noted as the most common cause of syndromic hearing loss in Sub-Saharan populations . However, it still only accounts for approximately 3%-5% of genetic cases (Beighton et al, 1991). In 1983, Sellers and Beighton evaluated 3006 school children and identified 90 (3.0%) as having Waardenburg Syndrome.…”

Section: Waardenburg Syndrome (Ws)mentioning

confidence: 99%

“…Pendred syndrome is a form of sensorineural hearing loss (SNHL) associated with thyroid goiter that accounts for <1% of genetic causes of hearing loss in Sub-Saharan Africa (Beighton et al, 1991;Wonkam et al, 2013). There are rare case reports in the literature, with the first cases in Africa described by Levin and Glugman in 1966 in two South African Bantu brothers (Levin and Klugman, 1966).…”

Section: Pendred Syndromementioning

confidence: 99%

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The genetic basis of deafness in populations of African descent

Rudman

Kabahuma

Bressler

et al. 2017

Journal of Genetics and Genomics

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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 in MYO3a 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.

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Section: Waardenburg Syndrome (Ws)mentioning

confidence: 99%

Section: Pendred Syndromementioning

confidence: 99%

The genetic basis of deafness in populations of African descent

Rudman

Kabahuma

Bressler

et al. 2017

Journal of Genetics and Genomics

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“…Indeed, piebald-like pigmentary anomalies occur in association with sensorineural deafness in the Waardenburg syndromes, though skin hypopigmentation is usually much less extensive and severe in WS than it is in piebaldism [Sellars and Beighton, 1983a;Winship and Beighton, 1992]-in a series of 89 South African children with WS, none had skin changes that approached those of the current proposita in severity [Sellars and Beighton, 1983a]. Similarly, in a series of 4,452 children attending special schools in South Africa, none had the combination of hearing loss and the skin changes of piebaldism [Sellars and Beighton, 1983b;Beighton et al, 1991]. Nevertheless, there have been occasional reports of piebaldism associated with sensorineural deafness.…”

Section: Resultsmentioning

confidence: 99%

Piebaldism with deafness: Molecular evidence for an expanded syndrome

Spritz

Beighton

1998

Am. J. Med. Genet.

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In a South African girl of Xhosa stock with severe piebaldism and profound congenital sensorineural deafness we identified a novel missense substitution at a highly conserved residue in the intracellular kinase domain of the KIT proto-oncogene, R796G. Though auditory anomalies have been observed in mice with dominant white spotting (W) due to KIT mutations, deafness is not typical in human piebaldism. Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome.

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“…2 Genetic disorders were causative in a significant portion of individuals with physical handicaps, intellectual dysfunction, visual disturbance and profound childhood deafness. 3 Numerous institutions in the Cape provided care and education for these persons, for whom diagnostic screening was initiated. In time, additional technical, nursing and medical posts were established, permitting institutional screening in other regions of SA.…”

Section: From the Pastmentioning

confidence: 99%