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A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics.
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2012 (English)In: EJD. European journal of dermatology, ISSN 1167-1122, E-ISSN 1952-4013, Vol. 22, no 4, 464-466 p.Article in journal (Refereed) Published
Abstract [en]

Mutations in the lysophosphatidic acid receptor 6 (LPAR6) gene cause localized autosomal recessive hypotrichosis. We report six consanguineous families from Pakistan with segregating hypotrichosis localized to the scalp. Genetic investigation using polymorphic microsatellite markers revealed homozygosity spanning the LAH3 locus on chromosome 13 in affected individuals of all six families. Sequence analysis of the LPAR6 gene showed a novel insertion resulting in a frameshift and a premature termination (p.I194FfsX11) in affected members of one family. In the remaining five families we identified a previously described missense mutation (p.G146R) in a homozygous state in affected members. The closest flanking polymorphic marker showed an identical allele size in the five families segregating with the p. G146R mutation, supporting a single origin of this variation. These findings extend the spectrum of known LPAR6 mutations and suggest a founder effect of the p. G146R mutation in the Pakistani population.

Place, publisher, year, edition, pages
2012. Vol. 22, no 4, 464-466 p.
Keyword [en]
alopecia, hypotrichosis, LPAR6
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-182784DOI: 10.1684/ejd.2012.1731ISI: 000308371200003OAI: oai:DiVA.org:uu-182784DiVA: diva2:560882
Available from: 2012-10-16 Created: 2012-10-15 Last updated: 2017-12-07Bibliographically approved

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Dahl, NiklasKlar, Joakim

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