title: Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma.
abstract: BACKGROUND
  Punctate palmoplantar keratoderma (PPPK, OMIM 148600) is a rare hereditary disorder characterized by multiple punctate keratoses on the palms and soles. Recently, mutations in the genes α- and γ-adaptin-binding protein p34 (AAGAB) and collagen, type XIV, α1 (COL14A1) have been reported to cause PPPK.
  
  
  OBJECTIVE
  To identify mutations in the genes AAGAB and COL14A1 in three Chinese families with PPPK.
  
  
  METHODS
  Genomic DNA of the family members and 100 healthy individuals was isolated. Direct sequencing of all polymerase chain reaction products of the whole coding regions of AAGAB and COL14A1 was performed to identify the mutation.
  
  
  RESULTS
  A heterozygous nonsense mutation c.61C>T (p.Q21X) was identified in AAGAB in two Chinese families with PPPK. We failed to detect any mutations in AAGAB or COL14A1 in family 3.
  
  
  CONCLUSIONS
  A novel loss-of-function mutation within AAGAB associated with PPPK was identified from two Chinese pedigrees.
authors: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai 200092, China. aypyslm@163.com
authors: M
authors: M
authors: Li
authors: L
authors: L
authors: Yang
authors: H
authors: H
authors: Shi
authors: B
authors: B
authors: Guo
authors: X
authors: X
authors: Dai
authors: Z
authors: Z
authors: Yao
authors: G
authors: G
authors: Zhang
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport; D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D018389:Codon, Nonsense / Q000235:genetics*; D003094:Collagen / Q000235:genetics*; D005260:Female; D006023:Glycoproteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D010375:Pedigree; D055815:Young Adult
chemical_list: C579464:AAGAB protein, human; D033942:Adaptor Proteins, Vesicular Transport; C054447:COL14A1 protein, human; D002352:Carrier Proteins; D018389:Codon, Nonsense; D006023:Glycoproteins; D003094:Collagen