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Summary

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.

Objectives

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.