title: Two cases of autosomal recessive woolly hair with LIPH gene mutations.
abstract: BACKGROUND
  Woolly hair is a hereditary disorder characterized by fine and tightly curled hair. Autosomal recessive woolly hair (ARWH) was recently determined to result from mutations in either the lipase H (LIPH) or the LPAR6 (P2RY5) gene.
  
  
  METHODS
  An 8-year-old boy (proband) and his 11-year-old brother presented with tightly coiled and sparse scalp hair. The boys did not have cardiomyopathy, palmoplantar keratoderma, or facial dysmorphism. Their parents had normal hair growth and no woolly hair. The sequence analysis of their genomic DNA revealed that the proband and his brother had a homozygous mutation of c.736T > A in the LIPH gene. On the basis of these findings, these patients were diagnosed with ARWH.
  
  
  CONCLUSIONS
  To the best of our knowledge, only 20 cases of ARWH have been previously reported in Japan. However, several reports showed that one mutation was detected in the 4/200 normal and unrelated alleles in healthy Japanese control individuals, indicating the presence of ARWH in patients with extremely mild symptoms.
authors.affiliation: Department of Dermatology, Faculty of Medicine, University of Yamanashi, Chuo-shi, Yamanashi, Japan. haradaderma@gmail.com
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Harada
authors.forename: Takashi
authors.initials: T
authors.lastname: Inozume
authors.forename: Tatsuyoshi
authors.initials: T
authors.lastname: Kawamura
authors.forename: Naotaka
authors.initials: N
authors.lastname: Shibagaki
authors.forename: Tomoko
authors.initials: T
authors.lastname: Kinoshita
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Deguchi
authors.forename: Shinji
authors.initials: S
authors.lastname: Shimada
mesh_terms: D002648:Child; D006197:Hair / Q000002:abnormalities*; D006201:Hair Diseases / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008049:Lipase / Q000235:genetics*; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: C504173:LIPC protein, human; D008049:Lipase