Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
Key Laboratory of Dermatology of Ministry of Education, Anhui Medical University, Anhui, China.
J Cosmet Dermatol. 2019 Dec;18(6):1930-1934. doi: 10.1111/jocd.12905. Epub 2019 Mar 12.
Pachyonychia congenita (PC), a rare autosomal dominant disorder, is featured by significant hypertrophic nail, palmoplantar keratoderma, and plantar pain. It is caused by the mutation of KRT6A, KRT6B, KRT6C, KRT16, or KRT17.
To identify the gene mutation caused the PC in a Chinese family.
PATIENTS/METHODS: Genomic DNA was extracted from peripheral blood samples of five patients and six healthy individuals. Genomic DNA of three patients was sequenced by whole-exome sequencing (WES). Then, exons 6 of KRT16 of all samples were amplified by polymerase chain reaction (PCR), and PCR products were sequenced to identify potential mutations.
We identified the proline substitution mutation p.Leu421Pro (c.1262T>C) in the 2B domain of K16 that is associated with PC in a Chinese family. The same mutation was not found in the six healthy individuals of the family.
The mutation found in this study is the first report in China. So far, 25 mutations in KRT16 have been reportedly associated with PC. Twenty-one mutations are located on exon 1, and four mutations on exon 6.
先天性厚甲症（PC）是一种罕见的常染色体显性遗传疾病，其特征为显著的肥厚性指甲、手掌和足底角化过度以及足底疼痛。它是由 KRT6A、KRT6B、KRT6C、KRT16 或 KRT17 的突变引起的。
鉴定一个中国家庭中 PC 所涉及的基因突变。
患者/方法：从五名患者和六名健康个体的外周血样本中提取基因组 DNA。对三名患者的基因组 DNA 进行全外显子组测序（WES）。然后，通过聚合酶链反应（PCR）扩增所有样本的 KRT16 外显子 6，并对 PCR 产物进行测序以鉴定潜在的突变。
我们在一个中国家庭中发现了与 PC 相关的 K16 第 2B 结构域中脯氨酸取代突变 p.Leu421Pro（c.1262T>C）。该突变在该家庭的六名健康个体中未发现。
本研究发现的突变是中国的首例报道。迄今为止，已有 25 种 KRT16 突变与 PC 相关。21 种突变位于外显子 1，4 种突变位于外显子 6。
