Hereditary leukonychia (HL, OMIM:151600) is a rare nail disorder characterized by a whitening of all nail plates. PLCD1 has been identified as the major causative gene responsible for it. Hitherto the reported cases with HL mainly originated from Pakistan. Herein, we report a recurrent heterozygous mutation, c.625 T > C (p.C209R), in PLCD1 in a Chinese family with HL. The proband was a 7-year-old Chinese girl born to nonconsanguineous parents. She presented with a white discoloration of all nail plates since birth. Her mother was also affected. On F I G U R E 1 (a-d) Clinical manifestation. All 20 nails were opaque porcelain white, with translucent and yellowish changes on distal part of some fingernail plates, in the proband (a, b) and her mother (c, d). (e-g) Mutation analysis. The arrow indicates the heterozygous missense mutation c.625 T > C (p.C209R) of PLCD1 in the proband (e) and her mother (f). No mutation was found in PLCD1 in the proband's father (g). (h) Schematic representation of human PLCδ1 protein. Ten PLCD1 mutations associated with HL scatter in the PLCδ1 protein. The position of the three mutations responsible for HL with koilonychias is showed by red.

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