Plcd1

PLCD1, the acronym for phospholipase C delta-1, denotes a gene encoding a specific phospholipase (1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1). The PLCD1 gene was mapped (1996) and localized on chromosome 3 (3p22-p21.3) using a somatic cell panel from humans and rodents (Lyu et al.). The activated phosphatidylinositol-specific phospholipase C mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). The enzyme is essential for the development of trophoblasts and placenta.

In human fetal nail sections, PLCD1 is detectable in the nail matrix and nail bed. In addition, expression of PLCD1 mRNA has been demonstrated in human skin and hair follicles.

Mutations of the PLCD1 gene cause nail changes of varying severity in humans (Nail disorder, non-syndromic congenital, 3; Leukonychia partialis also known as Leukonychia punctata, Leukonychia striatus, Leukonychia totalis, Leukonychia totalis and/or partialis, Porcelain nails). The clinical picture is characterized by a varying degree of white coloration of the nail plate, which otherwise appears unchanged (true leukonychia). Leukonychia can affect the entire nail (Leukonychia totalis) or only a part of the nail (Leukonychia partialis, Leukonychia punctata, Leukonychia striata).

Leukonychia as partial symptom of the familial lymphoedema distichiasis syndrome (mutation in the FOXC2 gene)

1. Kiuru M et al (2011) Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. At J Hum Genet 88:839-844.
2. Shimohama, S. et al (1995) Alteration of phospholipase C-delta protein level and specific activity in Alzheimer's disease. J Neurochem 162:183-186.
3. Xue K et al (2019) Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia. J Cosmet Dermatol 18:912-915.