Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome

 

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dc.contributor.author Wonkam, Ambroise en_ZA
dc.contributor.author Noubiap, Jean en_ZA
dc.contributor.author Bosch, Jason en_ZA
dc.contributor.author Dandara, Collet en_ZA
dc.contributor.author Toure, Genevieve en_ZA
dc.date.accessioned 2015-11-27T09:31:48Z
dc.date.available 2015-11-27T09:31:48Z
dc.date.issued 2013 en_ZA
dc.identifier.citation Wonkam, A., Noubiap, J. J., Bosch, J., Dandara, C., & Toure, G. B. (2013). Heterozygous p. Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. BMC medical genetics, 14(1), 81. en_ZA
dc.identifier.uri http://hdl.handle.net/11427/15387
dc.identifier.uri http://dx.doi.org/10.1186/1471-2350-14-81
dc.description.abstract BACKGROUND: Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. KID appears to be genetically heterogeneous and most cases are caused by GJB2 mutations. Mutations in African patients have been rarely described.CASE PRESENTATION:We report on two unrelated Cameroonian individuals affected with sporadic KID, presenting with the classic phenotypic triad. The two patients were heterozygous for the most frequent p.Asp50Asn mutation. This first report in patients from sub-Saharan African origin supports the hypothesis that the occurrence of KID due to p.Asp50Asn mutation in GJB2 seems not to be population specific. CONCLUSIONS: Our finding has implication in medical genetic practice, specifically in the molecular diagnosis of KID in Africans. These cases also reveal and emphasize the urgent need to develop appropriate policies to care for patients with rare/orphan diseases in Sub-Saharan Africa, as many of these cases become more and more recognizable. en_ZA
dc.language.iso eng en_ZA
dc.publisher BioMed Central Ltd en_ZA
dc.rights This is an Open Access article distributed under the terms of the Creative Commons Attribution License en_ZA
dc.rights.uri http://creativecommons.org/licenses/by/2.0 en_ZA
dc.source BMC Medical Genetics en_ZA
dc.source.uri http://www.biomedcentral.com/bmcmedgenet/ en_ZA
dc.subject.other KID syndrome en_ZA
dc.subject.other GJB2 gene en_ZA
dc.subject.other p.Asp50Asn mutation en_ZA
dc.subject.other Africa en_ZA
dc.subject.other Cameroon en_ZA
dc.title Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome en_ZA
dc.type Journal Article en_ZA
dc.rights.holder 2013 Wonkam et al.; licensee BioMed Central Ltd. en_ZA
uct.type.publication Research en_ZA
uct.type.resource Article en_ZA
dc.publisher.institution University of Cape Town
dc.publisher.faculty Faculty of Health Sciences en_ZA
dc.publisher.department Division of Human Genetics en_ZA
uct.type.filetype Text
uct.type.filetype Image
dc.identifier.apacitation Wonkam, A., Noubiap, J., Bosch, J., Dandara, C., & Toure, G. (2013). Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. <i>BMC Medical Genetics</i>, http://hdl.handle.net/11427/15387 en_ZA
dc.identifier.chicagocitation Wonkam, Ambroise, Jean Noubiap, Jason Bosch, Collet Dandara, and Genevieve Toure "Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome." <i>BMC Medical Genetics</i> (2013) http://hdl.handle.net/11427/15387 en_ZA
dc.identifier.vancouvercitation Wonkam A, Noubiap J, Bosch J, Dandara C, Toure G. Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. BMC Medical Genetics. 2013; http://hdl.handle.net/11427/15387. en_ZA
dc.identifier.ris TY - Journal Article AU - Wonkam, Ambroise AU - Noubiap, Jean AU - Bosch, Jason AU - Dandara, Collet AU - Toure, Genevieve AB - BACKGROUND: Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. KID appears to be genetically heterogeneous and most cases are caused by GJB2 mutations. Mutations in African patients have been rarely described.CASE PRESENTATION:We report on two unrelated Cameroonian individuals affected with sporadic KID, presenting with the classic phenotypic triad. The two patients were heterozygous for the most frequent p.Asp50Asn mutation. This first report in patients from sub-Saharan African origin supports the hypothesis that the occurrence of KID due to p.Asp50Asn mutation in GJB2 seems not to be population specific. CONCLUSIONS: Our finding has implication in medical genetic practice, specifically in the molecular diagnosis of KID in Africans. These cases also reveal and emphasize the urgent need to develop appropriate policies to care for patients with rare/orphan diseases in Sub-Saharan Africa, as many of these cases become more and more recognizable. DA - 2013 DB - OpenUCT DO - 10.1186/1471-2350-14-81 DP - University of Cape Town J1 - BMC Medical Genetics LK - https://open.uct.ac.za PB - University of Cape Town PY - 2013 T1 - Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome TI - Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome UR - http://hdl.handle.net/11427/15387 ER - en_ZA


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