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).
Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma
Article first published online: 8 JUL 2013
© 2013 The Authors BJD © 2013 British Association of Dermatologists
British Journal of Dermatology
Volume 169, Issue 1, pages 168–171, July 2013
How to Cite
Li, M., Yang, L., Shi, H., Guo, B., Dai, X., Yao, Z. and Zhang, G. (2013), Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma. British Journal of Dermatology, 169: 168–171. doi: 10.1111/bjd.12289
Conflicts of interest None declared.
M.L. and L.Y. contributed equally to this paper.
- Issue published online: 8 JUL 2013
- Article first published online: 8 JUL 2013
- Accepted manuscript online: 28 FEB 2013 11:24AM EST
- Manuscript Accepted: 24 FEB 2013
- National Natural Science Foundation of China. Grant Number: 81201222
- Shanghai Municipal Natural Science Foundation. Grant Number: #12ZR1420000
- Nanjing Medical University Technology Development Found. Grant Number: 2010NJMUZ63
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.