Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia

Xue, Ke; Zheng, Yinhe; Shen, Changbing; Cui, Yong

doi:10.1111/jocd.12707

Cited by 5 publications

(7 citation statements)

References 16 publications

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“…A number of genetic studies of patients with hereditary leukonychia support an association with mutations in the PLCD1 gene [325][326][327][328][329]. Hereditary leukonychia is a nail disorder characterised by nail plates whitening on all finger and toe nails referred to as porcelain nails.…”

Section: J O U R N a L P R E -P R O O Fmentioning

confidence: 99%

Phospholipase C families: Common themes and versatility in physiology and pathology

Katan

Cockcroft

2020

Progress in Lipid Research

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This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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Section: J O U R N a L P R E -P R O O Fmentioning

confidence: 99%

Phospholipase C families: Common themes and versatility in physiology and pathology

Katan

Cockcroft

2020

Progress in Lipid Research

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“…Moreover, it was found that the clinical manifestations of leukonychia concomitant koilonychias did not merely occur in the family described herein. The condition has also been reported in few cases of Chinese and Pakistani families (9,(13)(14)(15). Thus, this phenomena may not be a result of ethnic differences.…”

Section: Discussionmentioning

confidence: 75%

“…After reviewing the literature related to hereditary leukonychia, it was found that mutations in five genes are linked to the pathogenesis of HL (9). Different genes may be associated with distinct clinical phenotypes of HL.…”

Section: Discussionmentioning

confidence: 99%

Identification of two novel mutations in the PLCD1 gene in Chinese patients with hereditary leukonychia

et al. 2021

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Hereditary leukonychia (HL) is a rare nail dystrophy disease, and several different clinical manifestations and mutations in the phospholipase C δ 1 (PLCD1) gene have been reported. The present study reports on one Chinese family and one sporadic case of with HL. The family members exhibited an autosomal dominant pattern of inheritance with the involvement of all the fingers and toenails in all the patients. Of interest, most of the affected members had koilonychia during their childhood. Thus, the present study first used gene mapping with an aim to identify the pathogenic gene underlying koilonychia. Through genome-wide linkage analysis, the pathogenic area of koilonychia was identified on chromosome 3 with multipoint Log of Odds scores >2. A novel pathogenic mutation c.1384G>A (p.E462K) was identified in the PLCD1 gene in all the patients in the family, which confirmed the diagnosis of hereditary leukonychia. A novel mutation c.770G>A (p.R257H) was also detected in one sporadic case of leukonychia. On the basis of these findings and of previous studies, it is suggested that hereditary leukonychia may initially present as koilonychia, whereas hereditary koilonychia does not progress to leukonychia. Moreover, the present study identified two pathogenic variants of the PLCD1 associated with hereditary leukonychia, and highlights the significance of genetic diagnosis.

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“… 1 In another study examining HL in a Chinese Han pedigree with 2 affected individuals (mother and son), whole-exome sequence analysis identified a new missense mutation in exon 9 of the PLCD1 gene ( Table I ). 2 …”

Section: Discussionmentioning

confidence: 99%

“…Hereditary leukonychias (HLs) are rare nail disorders that present with partial or complete nail plate whitening, 1 , 2 due to abnormal keratinization of distal nail matrix cells, with numerous intracellular vacuoles with less dense keratin that appear white with light reflection. 2 Some cases are due to Phospholipase C, delta-1 (PLCD1) gene mutations, encoding an enzyme regulating energy metabolism signaling, Ca 2+ homeostasis, and intracellular movement. 1 We present a case of leukonychia associated with a novel homozygous missense PLCD1 gene mutation.…”

Section: Introductionmentioning

confidence: 99%

Identification of a novel homozygous missense mutation in the Phospholipase C, delta-1 gene associated with leukonychia in a Middle Eastern patient

Conway,

Henry,

Cohen

et al. 2024

JAAD Case Reports

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Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia

Abstract: 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.

Cited by 5 publications

References 16 publications

Phospholipase C families: Common themes and versatility in physiology and pathology

Phospholipase C families: Common themes and versatility in physiology and pathology

Identification of two novel mutations in the PLCD1 gene in Chinese patients with hereditary leukonychia

Identification of a novel homozygous missense mutation in the Phospholipase C, delta-1 gene associated with leukonychia in a Middle Eastern patient

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