ArticleAmerican journal of human genetics2011
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 51 citations in OpenAlex.
- Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family.Journal of human genetics · 2018Trial
- Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.Journal of inherited metabolic disease · 2025Review
- Identification of a novel homozygous missense mutation in the Phospholipase C, delta-1 gene associated with leukonychia in a Middle Eastern patient.JAAD case reports · 2024Article
- Activation Mechanisms and Diverse Functions of Mammalian Phospholipase C.Biomolecules · 2023Review
- Leukonychia: What Can White Nails Tell Us?American journal of clinical dermatology · 2022Review
- Identification of two novel mutations in theMolecular medicine reports · 2021Article
- Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease.Skin appendage disorders · 2019Article
- Mutation in Phospholipase C, δ1 (Balkan journal of medical genetics : BJMG · 2018Article
- Abnormalities of hair structure and skin histology derived from CRISPR/Cas9-based knockout of phospholipase C-delta 1 in mice.Journal of translational medicine · 2018Article
- [Leukonychia totalis].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2016Article
- SERPINB11 frameshift variant associated with novel hoof specific phenotype in Connemara ponies.PLoS genetics · 2015Article
- An Idiopathic Leukonychia Totalis and Leukonychia Partialis Case Report and Review of the Literature.Skin appendage disorders · 2015Article
- Idiopathic congenital true leukonychia totalis.Indian dermatology online journal · 2014Article
- Hereditary Leukonychia Totalis: A Case Report and Review of the Literature.Case reports in dermatologyArticle
- Treatment of Hereditary Leukonychia with Intramatricial Triamcinolone: A Case Report.Case reports in dermatologyArticle
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Hereditary leukonychia (porcelain nails or white nails) is a rare nail disorder with an unknown genetic basis. To identify variants in a gene underlying this phenotype, we identified four families of Pakistani origin showing features of hereditary leukonychia. All 20 nails of each affected individual were chalky and white in appearance, consistent with total leukonychia, with no other cutaneous, appendageal, or systemic findings. By using Affymetrix 10K chip, we established linkage to chromosome 3p21.3-p22 with a LOD score (Z) of 5.1. We identified pathogenic mutations in PLCD1 in all four families, which encodes phosphoinositide-specific phospholipase C delta 1 subunit, a key enzyme in phosphoinositide metabolism. We then identified localization of PLCD1 in the nail matrix. It was recently shown that PLCD1 is a component of the human nail plate by proteomic analysis and is localized in the matrix of human nails. Furthermore, mutations detected in PLCD1 resulted in reduced enzymatic activity in vitro. Our data show that mutations in PLCD1 underlie hereditary leukonychia, revealing a gene involved in molecular control of nail growth.
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