A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.

Abstract

Mutations in the lipase member H (LIPH) gene cause autosomal recessive hypotrichosis with woolly hair. We report herein on five consanguineous families from Pakistan segregating hypotrichosis and woolly hair. Genetic investigation using polymorphic microsatellite markers revealed homozygosity for a region spanning the HYPT7 locus on chromosome 3 in affected individuals of all five families. Sequence analysis of the LIPH gene revealed a novel nonsense mutation (p.Arg260X) associated with hypotrichosis without woolly hair in one family. In the remaining four families we identified previously described mutations in a homozygous state in affected members. These findings extend the spectrum of known LIPH mutations in the Pakistani population.

• Authors: Muhammad Tariq, Aysha Azhar, Shahid Mahmood Baig, Niklas Dahl, Joakim Klar
• Journal: Scientific reports (Sci Rep) Vol. 2 Pg. 730 ( 2012) ISSN: 2045-2322 [Electronic] England
• PMID: 23066499 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• LIPC protein, human
• Lipase

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Consanguinity
• Female
• Genes, Recessive
• Genetic Linkage
• Genotype
• Humans
• Hypotrichosis (genetics)
• Lipase (genetics)
• Male
• Microsatellite Repeats
• Mutation
• Pakistan
• Phenotype
• Polymorphism, Genetic
• Young Adult