title: Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair.
abstract: Woolly hair is characterized by fine and tightly curled hair. It has recently been revealed that both LPAR6 and lipase H (LIPH) mutations cause autosomal recessive woolly hair (ARWH)/hypotrichosis. This notion has provided critical evidence to the concept that LPA6 activation by LIPH-catalyzed lipid mediator lysophosphatidic acid has a key role in regulation of hair follicle development. Very recently, novel mutations in exon 6, homozygous 736T>A and compound heterozygous 736T>A and 742C>A have been identified in Japanese ARWH/hypotrichosis patients. Here, we report on siblings (a 7-year-old Japanese girl and her 5-year-old brother) both showing woolly hair. Determination of their genomic sequence showed presence of a homozygous 736T>A transition in exon 6 of the LIPH gene changing cysteine at position 246 to serine, without any mutation in the LPAR6 gene. Additionally, the same mutation was found in one out of a 100 alleles of Japanese healthy controls and identified homozygously in three out of four other Japanese sporadic cases with woolly hair. Collectively, it has been suggested that 736T>A transition is highly specific and common in ARWH/hypotrichosis of Japanese origin.
authors.affiliation: Department of Dermatology, Wakayama Medical University, Wakayama, Japan. 777@wakayama-med.ac.jp
authors.forename: Takashi
authors.initials: T
authors.lastname: Yoshimasu
authors.forename: Nobuo
authors.initials: N
authors.lastname: Kanazawa
authors.forename: Naotomo
authors.initials: N
authors.lastname: Kambe
authors.forename: Motonobu
authors.initials: M
authors.lastname: Nakamura
authors.forename: Fukumi
authors.initials: F
authors.lastname: Furukawa
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006201:Hair Diseases / Q000151:congenital* / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007564:Japan; D008049:Lipase / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: C504173:LIPC protein, human; D008049:Lipase