Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family

Journal of Human Genetics
Teka KhanHuan Zhang

Abstract

Hereditary leukonychia (also known as porcelain nails or white nails) is a genetic disorder. It may exist as an isolated feature or associated with other cutaneous or systemic disorders. Although a number of genes have been described to cause leukonychia, still the underlying genetic etiologies of many cases remain unknown. Here, we report a Pakistani family presenting leukonychia and koilonychia nails in mother and five of her kids. All the affected individuals had white to pale nails in appearance exhibiting complete and partial leukonychia, respectively. Similarly, nails of finger and toe appeared brittle and concave, showing the characteristics features of koilonychia. Whole exome sequencing and subsequent Sanger sequencing identified a pathogenic novel missense mutation (c.1390G>A, p.Glu464Lys) in PLCD1, co-segregating with the disorder in an autosomal dominant pattern. In silico prediction tools supported the pathogenicity of the identified mutation. Literature review determined that mutations in PLCD1 only cause leukonychia. Therefore, our findings add another pathogenic variant to the PLCD1 mutation pool causing leukonychia that would help to understand the underlying molecular mechanism.

References

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Citations

Aug 16, 2019·The American Journal of Dermatopathology·Deniz Ates, Kemal Kosemehmetoglu
Sep 24, 2020·Progress in Lipid Research·Matilda Katan, Shamshad Cockcroft

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Methods Mentioned

BETA
exome sequencing
electrophoresis

Software Mentioned

MODEL
SWISS
MEGA6
Genome Analysis Toolkit
ANNOVAR

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