title: Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.
abstract: BACKGROUND
  Progressive symmetrical erythrokeratodermia (PSEK) is a rare inherited cornification disorder characterized by symmetrical erythematous hyperkeratotic plaques. The genetic basis for PSEK is not clear. PSEK shares many clinical features with erythrokeratodermia variabilis (EKV), which is associated with mutations in genes coding for gap junction beta (GJB) 3 and 4. A mutation in the loricrin gene (LOR) was found in patients with PSEK, who were members of a family with Vohwinkel syndrome. It would therefore be of interest to determine if PSEK is also caused by mutations in these genes.
  
  
  OBJECTIVE
  To examine the mutation status of GJB3, GJB4 and LOR in patients with PSEK and in control subjects.
  
  
  METHODS
  Genomic DNA samples from 25 patients with PSEK and 56 healthy controls were examined by sequencing analysis of the coding sequences of GJB3, GJB4 and LOR.
  
  
  RESULTS
  There were no mutations found in any of these three genes.
  
  
  CONCLUSIONS
  PSEK is a disorder distinct from EKV, and the true pathogenesis of PSEK remains unknown.
authors.affiliation: Department of Dermatology, Zhujiang Hospital, Nanfang Medical University, Guangzhou, China. shengcaiwei@yahoo.com.cn
authors.forename: S
authors.initials: S
authors.lastname: Wei
authors.forename: Y
authors.initials: Y
authors.lastname: Zhou
authors.forename: T D
authors.initials: TD
authors.lastname: Zhang
authors.forename: Z M
authors.initials: ZM
authors.lastname: Huang
authors.forename: X B
authors.initials: XB
authors.lastname: Zhang
authors.forename: H L
authors.initials: HL
authors.lastname: Zhu
authors.forename: B H
authors.initials: BH
authors.lastname: Liang
authors.forename: L
authors.initials: L
authors.lastname: Lin
authors.forename: L
authors.initials: L
authors.lastname: Deng
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D004890:Erythema / Q000235:genetics* / Q000473:pathology; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007223:Infant; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology; D055815:Young Adult