title: [Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome].
abstract: OBJECTIVE
  To detect potential mutations of gap junction protein beta 2 (GJB2) and loricrin (LOR) genes in two patients with Vohwinkel syndrome.
  
  
  METHODS
  Polymerase chain reaction and DNA sequencing were used for detecting potential mutations in the GJB2 and LOR genes. Parents of one patient and 50 healthy individuals were used as controls.
  
  
  RESULTS
  A novel homozygous missense mutation (c.A796G) of LOR gene was detected in one patient. The same mutation was not found in the other patient, their relatives and the 50 healthy controls.
  
  
  CONCLUSIONS
  A missence mutation of LOR gene was detected in a patient with Vohwinkel syndrome.
authors.affiliation: Guangzhou Institute of Dermatology, Guangdong 510095, P.R. China.
authors.forename: Yu-mei
authors.initials: YM
authors.lastname: Liu
authors.forename: Xin-jing
authors.initials: XJ
authors.lastname: Gao
authors.forename: Xin
authors.initials: X
authors.lastname: Tian
authors.forename: Xue-mei
authors.initials: XM
authors.lastname: Li
authors.forename: Xi-bao
authors.initials: XB
authors.lastname: Zhang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D008565:Membrane Proteins; C064554:loricrin; D000072259:Connexin 26