Premium
Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia
Author(s) -
Xue Ke,
Zheng Yajie,
Shen Changbing,
Cui Yong
Publication year - 2019
Publication title -
journal of cosmetic dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.626
H-Index - 44
eISSN - 1473-2165
pISSN - 1473-2130
DOI - 10.1111/jocd.12707
Subject(s) - genetics , sanger sequencing , missense mutation , proband , mutation , exome sequencing , exon , compound heterozygosity , gene mutation , genotype phenotype distinction , gene , biology , mutation testing , medicine , genotype
Summary 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.