Document Detail


A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect.
MedLine Citation:
PMID:  22531990     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Aysha Azhar; Muhammad Tariq; Shahid Mahmood Baig; Niklas Dahl; Joakim Klar
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-4-25
Journal Detail:
Title:  European journal of dermatology : EJD     Volume:  -     ISSN:  1167-1122     ISO Abbreviation:  -     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-4-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9206420     Medline TA:  Eur J Dermatol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan.
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