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

Wonkam A, Noubiap JJ, Bosch J, Dandara C, Toure GB - BMC Med. Genet. (2013)

Bottom Line: The two patients were heterozygous for the most frequent p.Asp50Asn mutation.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Division of Human Genetics, Department of Clinical Laboratory Sciences, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa. ambroise.wonkam@uct.ac.za

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.

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Related in: MedlinePlus

Mutation analysis of GJB2 in the two Cameroonian individuals affected with sporadic KID. Panel A: Sequence chromatograms of GJB2 from unaffected individual; Panel B: Sequence chromatograms from affected patients depicting the heterozygous transition 148G → A at codon 50 encoding asparagine instead of aspartic acid (p.Asp50Asn) (Panel B).
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Figure 2: Mutation analysis of GJB2 in the two Cameroonian individuals affected with sporadic KID. Panel A: Sequence chromatograms of GJB2 from unaffected individual; Panel B: Sequence chromatograms from affected patients depicting the heterozygous transition 148G → A at codon 50 encoding asparagine instead of aspartic acid (p.Asp50Asn) (Panel B).

Mentions: Analysis of GJB2 exon 2 in the genomic DNA of the two unrelated patients revealed a heterozygous missense mutation c.148G > A, resulting in a putative amino acid change from aspartic acid (GAC) to asparagine (AAC) in codon 50 p.Asp50Asn (Figure 2). p.Asp50Asn were not present in more than 180 unrelated individuals who were screened for recessive deafness mutations or in 60 healthy control persons of Cameroonian origin [unpublished results].


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

Wonkam A, Noubiap JJ, Bosch J, Dandara C, Toure GB - BMC Med. Genet. (2013)

Mutation analysis of GJB2 in the two Cameroonian individuals affected with sporadic KID. Panel A: Sequence chromatograms of GJB2 from unaffected individual; Panel B: Sequence chromatograms from affected patients depicting the heterozygous transition 148G → A at codon 50 encoding asparagine instead of aspartic acid (p.Asp50Asn) (Panel B).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3750395&req=5

Figure 2: Mutation analysis of GJB2 in the two Cameroonian individuals affected with sporadic KID. Panel A: Sequence chromatograms of GJB2 from unaffected individual; Panel B: Sequence chromatograms from affected patients depicting the heterozygous transition 148G → A at codon 50 encoding asparagine instead of aspartic acid (p.Asp50Asn) (Panel B).
Mentions: Analysis of GJB2 exon 2 in the genomic DNA of the two unrelated patients revealed a heterozygous missense mutation c.148G > A, resulting in a putative amino acid change from aspartic acid (GAC) to asparagine (AAC) in codon 50 p.Asp50Asn (Figure 2). p.Asp50Asn were not present in more than 180 unrelated individuals who were screened for recessive deafness mutations or in 60 healthy control persons of Cameroonian origin [unpublished results].

Bottom Line: The two patients were heterozygous for the most frequent p.Asp50Asn mutation.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Division of Human Genetics, Department of Clinical Laboratory Sciences, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa. ambroise.wonkam@uct.ac.za

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.

Show MeSH
Related in: MedlinePlus