Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype

Objective: to identify the disease causing gene in a four generation consanguineous family in which eleven family members were suffering from woolly hair/hypotrichosis phenotype. methods: linkage analysis was carried out to identify the disease-causing gene in this family. genomic dna of all the available family members was genotyped for the microsatellite markers for all the known woolly hair/hypotrichosis loci. automated dna sequencing of the candidate gene was performed to identify the diseasecausing mutation. results: by using homozygosity linkage analysis we have mapped the family on chromosome 3q27.3 with a two point lod score of 4.04. mutation screening of the liph gene revealed a homozygous c.659_660delta deletion mutation segregating with the disease phenotype. conclusion: the results indicate that the c.659_660delta mutation in the liph gene cause autosomal recessive wh/hypotrichosis phenotype in this family. this mutation has been reported in several pakistani and guyanese families suggesting a founder mutation in the liph gene in indo-pak sub-continent.