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.
Highlights
IntroductionLeukonychia, or white opacity of nails, is a common disease in humans for decades with both acquired and hereditary
Leukonychia, or white opacity of nails, is a common disease in humans for decades with both acquired and hereditaryElectronic supplementary material The online version of this article contains supplementary material, which is available to authorized users.leukonychia-linked mutant PLCD1, validating that mutations in PLCD1 cause isolated leukonychia [17].Leukonychia in syndromic condition has been reported in a number of studies [11, 18, 19]
We identified a novel missense mutation in PLCD1 resulting in leukonychia (Fig. 1)
Summary
Leukonychia, or white opacity of nails, is a common disease in humans for decades with both acquired and hereditary. Leukonychia in syndromic condition has been reported in a number of studies [11, 18, 19]. A familial Bart–Pumphrey Syndrome-associated leukonychia was described, co-segregating with autosomal recessive missense mutation in Gap junction beta-2 (GJB2) gene [18]. An autosomal dominant missense mutation in Desmoplakin (DSP) gene instigated leukonychia with Carvajal/Naxos syndrome [11]. Leukonychia was accompanied with familial peeling skin syndrome, caused by autosomal recessive loss of function mutations in Calpastatin (CAST) gene [19]. Few cases of sporadic leukonychia with koilonychia, characterized by white, thin, and spoon-shaped nails have been reported [20,21,22]. The genetic mechanisms that lead to leukonychia with koilonychia remain unrevealed
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
