Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia.
PLCD1
hereditary leukonychia
whole-exome sequencing
Journal
Journal of cosmetic dermatology
ISSN: 1473-2165
Titre abrégé: J Cosmet Dermatol
Pays: England
ID NLM: 101130964
Informations de publication
Date de publication:
Jun 2019
Jun 2019
Historique:
received:
22
02
2018
accepted:
31
05
2018
pubmed:
14
7
2018
medline:
18
12
2019
entrez:
14
7
2018
Statut:
ppublish
Résumé
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. 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. 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. 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.
Sections du résumé
BACKGROUND
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
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
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
CONCLUSIONS
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.
Substances chimiques
PLCD1 protein, human
EC 3.1.4.11
Phospholipase C delta
EC 3.1.4.11
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
912-915Subventions
Organisme : National Key Basic Research Program of China
ID : 2014CB541901
Organisme : National Nature Science Foundation of China
ID : 30500440
Informations de copyright
© 2018 Wiley Periodicals, Inc.