Three development blocks of Almora - Dhaula Devi, Lamgara and Bhausiyachana, have hugely benefited under the LIPH
. Implemented and monitored by the SHG, Centre for Himalayan Studies, this project operates in 203 villages.
Conclusion: The results indicate that the c.659_660delTA mutation in the LIPH gene cause autosomal recessive WH/hypotrichosis phenotype in this family.
Keywords: Woolly, Hair, Hypotrichosis, LIPH, Pakistan (JPMA 61: 1060; 2011).
Mutations in the LPAR6 (MIM 609239) and LIPH (MIM 607365) genes have been reported to cause autosomal recessive WH/hypotrichosis phenotype in various families.6,7 The LPAR6 and LIPH genes have been shown to have a common signalling pathway and are involved in hair growth in humans.8 The LPAR6 gene encodes lysophosphatidic acid receptor 6 (LPAR6), whereas, the LIPH codes for lipase H (or a membrane-associated phosphatidic acid-selective phospholipase A1a [mPA-PLA1a]) that produce 2-acyl lysophosphatidic acid (LPA).8,9 LPA plays an important role in various biological functions and is a ligand of LPAR6.8,9 The protein products of LPAR6 and LIPH gene are abundantly expressed in the inner root sheath (IRS) of the hair follicle.
The LAH2 locus for autosomal recessive hypotrichosis harbouring the LIPH gene has been mapped on chromosome 3q27.3.10 This locus overlaps with an alopecia mental retardation syndrome (APMR1) locus on chromosome 3q26.33-q27.3.11
Several polymorphic microsatellite markers specific for the plausible candidate gene loci were genotyped i.e., 13q14.11-q21.32 (LPAR6) and 3q27.3 (LIPH).
To identify the disease causing mutation, DNA samples of affected and clinically normal subjects were analyzed for LIPH gene mutation.
We mapped a family with ARWH/hypotrichosis at chromosome 3q27.3 that harbours the LIPH gene.