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

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dc.contributor.authorWonkam, Ambroiseen_ZA
dc.contributor.authorNoubiap, Jeanen_ZA
dc.contributor.authorBosch, Jasonen_ZA
dc.contributor.authorDandara, Colleten_ZA
dc.contributor.authorToure, Genevieveen_ZA
dc.date.accessioned2015-11-27T09:31:48Z
dc.date.available2015-11-27T09:31:48Z
dc.date.issued2013en_ZA
dc.description.abstractBACKGROUND: 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.identifier.apacitationWonkam, 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/11427/15387en_ZA
dc.identifier.chicagocitationWonkam, 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/11427/15387en_ZA
dc.identifier.citationWonkam, 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.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
dc.identifier.urihttp://hdl.handle.net/11427/15387
dc.identifier.urihttp://dx.doi.org/10.1186/1471-2350-14-81
dc.identifier.vancouvercitationWonkam 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.language.isoengen_ZA
dc.publisherBioMed Central Ltden_ZA
dc.publisher.departmentDivision of Human Geneticsen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.rightsThis is an Open Access article distributed under the terms of the Creative Commons Attribution Licenseen_ZA
dc.rights.holder2013 Wonkam et al.; licensee BioMed Central Ltd.en_ZA
dc.rights.urihttp://creativecommons.org/licenses/by/2.0en_ZA
dc.sourceBMC Medical Geneticsen_ZA
dc.source.urihttp://www.biomedcentral.com/bmcmedgenet/en_ZA
dc.subject.otherKID syndromeen_ZA
dc.subject.otherGJB2 geneen_ZA
dc.subject.otherp.Asp50Asn mutationen_ZA
dc.subject.otherAfricaen_ZA
dc.subject.otherCameroonen_ZA
dc.titleHeterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndromeen_ZA
dc.typeJournal Articleen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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