单位：[1]Department of Dermatology, China‐Japan Friendship Hospital, Beijing, China[2]Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China[3]Institute of Dermatology and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
Background Hereditary leukonychia is a rare nail dystrophy characterized by distinctive whitening of the nail plate. Mutations in the PLCD1 gene have been identified as a major causative factor in hereditary leukonychia (HL). However, few reports have analyzed the relationship between genotype and phenotype, especially in Chinese HL patients. Our study aims to explore the typical clinical features of hereditary leukonychia cases in Chinese Han pedigree and the correlations with PLCD1 gene mutation. Patients and methods In this study, two Chinese patients presented with leukonychia and koilonychia. Whole-exome sequencing (WES) was performed to screen for the mutations in PLCD1 gene and other candidate genes for hereditary leukonychia. Parents with PLCD1 mutation were selected for Sanger sequencing. Results A novel heterozygote missense mutation in exon 9 of PLCD1 gene was identified in the proband and his mother. Whole-exome sequencing revealed both, the proband (III.5) and his mother (II.4) carrying c.1451A>G mutation, while other family members had a normal sequence of the PLCD1 gene. Conclusion For the first time, a hereditary leukonychia case with PLCD1 mutation has been described in Chinese Han pedigree. This finding suggests the PLCD1 mutation maybe involved in hereditary leukonychia.
基金：
National Key Basic Research Program of ChinaNational Basic Research Program of China [2014CB541901]; National Nature Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [30500440]
第一作者单位：[1]Department of Dermatology, China‐Japan Friendship Hospital, Beijing, China[2]Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
通讯作者：
通讯机构：[1]Department of Dermatology, China‐Japan Friendship Hospital, Beijing, China[2]Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China[3]Institute of Dermatology and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China[*1]2 East Yinghuayuan Street, Chaoyang District, Beijing 100029, China
推荐引用方式(GB/T 7714)：
Xue Ke,Zheng Yajie,Shen Changbing,et al.Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia[J].JOURNAL of COSMETIC DERMATOLOGY.2019,18(3):912-915.doi:10.1111/jocd.12707.
APA：
Xue, Ke,Zheng, Yajie,Shen, Changbing&Cui, Yong.(2019).Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia.JOURNAL of COSMETIC DERMATOLOGY,18,(3)
MLA：
Xue, Ke,et al."Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia".JOURNAL of COSMETIC DERMATOLOGY 18..3(2019):912-915
