A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.
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.
Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering-NIBGE, Faisalabad, Pakistan.
Muhammad
M
Tariq
Aysha
A
Azhar
Shahid Mahmood
SM
Baig
Niklas
N
Dahl
Joakim
J
Klar
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008049:Lipase / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010154:Pakistan; D010641:Phenotype; D011110:Polymorphism, Genetic; D055815:Young Adult
C504173:LIPC protein, human; D008049:Lipase