Mutation p.Arg127Pro in the IA Domain of KRTI6 Causes Pachyonychia Congenita in Chinese Patient: A Case Report of PC Associated with Acral Melanoma

Pachyonychia congenita (PC) is a group of rare hereditary disorders, characterised by hypertrophic nails and palmoplantar keratoderma (PPK), particularly localised to the pressure areas of the feet. At a molecular level, it is caused by mutations in genes encoding KRT6A, KRT6B, KRT6C, KRT16, or KRT1...

Full description

Saved in:
Bibliographic Details
Published in:Clinical, cosmetic and investigational dermatology cosmetic and investigational dermatology, 2024-05, Vol.17, p.1111
Main Authors: Ge, Wei-Wei, Chen, Zai-Ming, Chou, Meng-Wei, Ismail, Ferina, Chen, Guang, Wu, Li-Ming, Yang, Jian-Qiang
Format: Article
Language:English
Subjects:
Gene mutations
Genes
Genetic aspects
Melanoma
Proline
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Pachyonychia congenita (PC) is a group of rare hereditary disorders, characterised by hypertrophic nails and palmoplantar keratoderma (PPK), particularly localised to the pressure areas of the feet. At a molecular level, it is caused by mutations in genes encoding KRT6A, KRT6B, KRT6C, KRT16, or KRT17. To identify the underlying gene mutation in a Chinese family with PC presenting with disabling palmoplantar keratoderma and subsequent associated acral melanoma. Genomic DNA was extracted from peripheral blood samples of three available individuals in the Chinese family, which included the patient and his two unaffected sisters. The index patient presented with severe palmoplantar keratoderma as well as a newly diagnosed acral malignant melanoma (MM). Whole-exome sequencing (WES) was carried out with amplification of exon 1 of KRT16 by polymerase chain reaction (PCR). PCR products were then sequenced to identify potential mutations. We identified the proline substitution mutation p.Arg127Pro (c.380G>C) in our patient's 1A domain of KRT16. The same mutation was not found in his sisters or unrelated healthy controls. The mutation (p.Arg127Pro (c.380G>C)) in KRT16 has been reported in Dutch patients with PC. However, it is the first such report of a patient with a PC of Chinese origin. In addition, the acral MM occurred under the background of genetic PPK caused by KRT16 mutation in this patient. Keywords: pachyonychia congenita, Chinese patient, acral melanoma, mutation of gene
ISSN:1178-7015
1178-7015
DOI:10.2147/CCID.S462273