uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
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.
Show others and affiliations
2012 (English)In: EJD. European journal of dermatology, ISSN 1167-1122, 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
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: 2016-02-29Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full text

Search in DiVA

By author/editor
Dahl, NiklasKlar, Joakim
By organisation
Medical Genetics
In the same journal
EJD. European journal of dermatology
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 191 hits
ReferencesLink to record
Permanent link

Direct link