title: No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum.
abstract: OBJECTIVE
  Progressive symmetric erythrokeratodermia (PSEK) is characterized by symmetric and growing erythematous hyperkeratotic patches over the body shortly after birth, particularly trunk and limbs, the buttocks, and the face, sometimes together with palmoplantar keratoderma (PPK). The GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR gene mutation might contribute to PSEK manifestation. This study aimed to identify sequence alteration of these genes in a Chinese PSEK patient with pseudoainhum.
  
  
  METHODS
  Genomic DNA was purified from the patient's peripheral blood. Mutation analysis of target genes was performed by direct sequencing using ABI 3730 sequencer
  
  
  RESULTS
  No exonic mutations was identified in the aforementioned genes.
  
  
  CONCLUSIONS
  The result underlines the genetic heterogeneity of PSEK and other related erythrokeratodermas.
authors: Institute of Dermatology and Department of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China; Department of Dermatology and Venereology, Anhui Medical University, Hefei, Anhui, China; State Key Laboratory of Dermatology Incubation, Ministry of Science and Technology, Hefei, Anhui, China.
authors: Fusheng
authors: F
authors: Zhou
authors: Hongyang
authors: H
authors: Fu
authors: Linghua
authors: L
authors: Liu
authors: Yong
authors: Y
authors: Cui
authors: Zhengzhong
authors: Z
authors: Zhang
authors: Ruixue
authors: R
authors: Chang
authors: Zhen
authors: Z
authors: Yue
authors: Sen
authors: S
authors: Yang
authors: Xuejun
authors: X
authors: Zhang
mesh_terms: D000293:Adolescent; D000387:Ainhum / Q000235:genetics*; D000950:Antigens, Ly / Q000235:genetics; D044466:Asian People / Q000235:genetics; D002681:China; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics; D003251:Constriction, Pathologic / Q000235:genetics*; D056266:Erythrokeratodermia Variabilis / Q000235:genetics*; D016355:Genes, pX / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics
chemical_list: D000950:Antigens, Ly; D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; C048963:SLURP1 protein, human; D000072259:Connexin 26; C068044:GJB3 protein, human; C076275:connexin 30.3; D014568:Urokinase-Type Plasminogen Activator