title: Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.
abstract: BACKGROUND
  Mutations in lipase H (LIPH) are a rare cause of autosomal recessive hypotrichosis (HT) simplex.
  
  
  OBJECTIVE
  In this study, we investigated the clinical and molecular basis of HT simplex with woolly hair in 3 nonrelated families.
  
  
  METHODS
  Three families of Jewish, Arab Muslim, and Italian origin that presented with HT with woolly hair were studied. The phenotype was confirmed by clinical, microscopic, and histologic examination. Polymorphic microsatellite genotyping and direct automated DNA sequencing of the LIPH gene were used to identify the mutations in our probands.
  
  
  RESULTS
  All patients had woolly hair since birth. At presentation, scalp hair density was reduced or normal. Sequencing of the LIPH gene revealed two homozygous mutations: a large recurrent 90-base pair duplication mutation in exon 2 in the Jewish and Arab families, and a novel deletion/insertion mutation in exon 4 in the Italian family.
  
  
  CONCLUSIONS
  Only 3 families were studied.
  
  
  CONCLUSIONS
  Mutations in LIPH result in variable degrees of HT. Woolly hair is an essential component of the clinical spectrum. A hot spot in the LIPH gene may be c.280_369dup in exon 2.
authors.affiliation: Department of Dermatology, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Liran
authors.initials: L
authors.lastname: Horev
authors.forename: Antonella
authors.initials: A
authors.lastname: Tosti
authors.forename: Irit
authors.initials: I
authors.lastname: Rosen
authors.forename: Klilah
authors.initials: K
authors.lastname: Hershko
authors.forename: Colombina
authors.initials: C
authors.lastname: Vincenzi
authors.forename: Krassimira
authors.initials: K
authors.lastname: Nanova
authors.forename: Alexander
authors.initials: A
authors.lastname: Mali
authors.forename: Tamara
authors.initials: T
authors.lastname: Potikha
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
mesh_terms: D000293:Adolescent; D018912:Arabs / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D005808:Genes, Recessive; D006197:Hair / Q000473:pathology*; D018859:Hair Follicle / Q000473:pathology*; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics* / Q000473:pathology*; D007558:Italy; D007585:Jews / Q000235:genetics; D008049:Lipase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
chemical_list: C504173:LIPC protein, human; D008049:Lipase