Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma


  • Funding sources This study was funded by a grant from the National Natural Science Foundation of China 81201222, Shanghai Municipal Natural Science Foundation (#12ZR1420000) and Nanjing Medical University Technology Development Fund (2010NJMUZ63).
  • Conflicts of interest None declared.
  • M.L. and L.Y. contributed equally to this paper.


Guolong Zhang and Ming Li.

E-mails: zglamu@163.com; aypyslm@163.com



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.


To identify mutations in the genes AAGAB and COL14A1 in three Chinese families with PPPK.


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.


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.


A novel loss-of-function mutation within AAGAB associated with PPPK was identified from two Chinese pedigrees.