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Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family
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2011 (English)In: Pakistan journal of medical sciences print, ISSN 1682-024X, E-ISSN 1681-715X, Vol. 27, no 3, 686-689 p.Article in journal (Refereed) Published
Abstract [en]

Objective: To characterize the disease causing mutation in a large consanguineous Pakistani family with severe Mat de Meleda (MDM) or keratosis palmoplantaris transgrediens, a rare autosomal recessive skin disorder. Methodology: Single nucleotide polymorphism (SNPs) genotyping was performed using the Gene Chip Mapping 250K array (Affymetrix). Homozygosity mapping and sorting of genomic regions were performed with dedicated software called AutoSNPa. Selected regions were further investigated by genotyping with microsatellite markers derived from known and novel pOlymorphic repeats. Two-point LOD score calculation was performed by using the MLINK of Fast link computer package. All three coding exons of ARS (component B) gene were amplified by PCR and sequenced. Conclusion: Sequencing of all the coding exons of ARS (component B) gene in the affected individuals revealed a recurrent missense mutation in exon 3 at base pair 256 from Guanine to Alanine (256G>A) and as a result the amino acid Glycine is replaced by Arginine at position 86 (G86R). This finding will facilitate control of affected MDM births in the Pakistani families.

Place, publisher, year, edition, pages
2011. Vol. 27, no 3, 686-689 p.
Keyword [en]
Mal de Meleda (MDM), Palmoplantar keratoderma (PPK), ARS (component B) gene
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-158423ISI: 000293485000048OAI: oai:DiVA.org:uu-158423DiVA: diva2:439564
Available from: 2011-09-08 Created: 2011-09-07 Last updated: 2017-12-08Bibliographically approved

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Department of Immunology, Genetics and Pathology
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