title: Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.
abstract: 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 disease-causing 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.
  
  
  CONCLUSIONS
  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.
authors: Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
authors: Sayed Hajan
authors: SH
authors: Shah
authors: Aiysha
authors: A
authors: Abid
authors: Saba
authors: S
authors: Shahid
authors: Shagufta
authors: S
authors: Khaliq
mesh_terms: D000328:Adult; D001483:Base Sequence; D003241:Consanguinity; D003430:Cross-Sectional Studies; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006201:Hair Diseases / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008049:Lipase / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: C504173:LIPC protein, human; D008049:Lipase