Abstract
Background
Autosomal recessive hypotrishosis (LAH2) is a rare form of alopecia characterized
by sparse hair on scalp, sparse to absent eyebrows and eyelashes, and sparse auxiliary
and body hair. However, affected male individuals have normal beard hair. Mutations
in lipase H (LIPH) gene, located on chromosome 3q26.33, have been shown to be responsible for LAH2
type of hypotrichosis.
Objectives
To search for pathogenic mutations in LIPH gene at LAH2 locus in Pakistani families demonstrating autosomal recessive hypotrichosis.
Methods
In the present study we have ascertained two large unrelated consanguineous Pakistani
families (A and B) inherited autosomal recessive form of hypotrichosis. Linkage in
these families was searched by genotyping microsatellite markers linked to autosomal
recessive hypotrichosis loci LAH1, LAH2 and LAH3. Affected individuals showed homozygosity
to the microsatellite markers tightly linked to LIPH gene at LAH2 locus on chromosome 3q26.33. These families were then subjected to direct
sequencing of the LIPH gene.
Results
Sequence analysis of the LIPH gene revealed two novel missense mutations (c.2T > C; p.M1T and c.322T > C; p.W108R) in the two families.
Conclusion
The mutations reported here are the first missense mutations identified in the LIPH gene, which extend the body of evidences implicating the LIPH gene in the pathogenesis of human hereditary hair loss.
Keywords
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Article info
Publication history
Published online: July 12, 2010
Accepted:
December 5,
2008
Received in revised form:
November 29,
2008
Received:
October 6,
2008
Identification
Copyright
© 2008 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.
