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M. Farooq, M. Kurban, O. Abbas, O. Obeidat, H. Fujikawa, A.‐G. Kibbi, A. Fujimoto, Y. Shimomura, A novel mutation in the PLCD1 gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia, British Journal of Dermatology, Volume 167, Issue 4, 1 October 2012, Pages 946–949, https://doi.org/10.1111/j.1365-2133.2012.10962.x
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M.K. and Y.S. contributed equally to this work.
Funding sources: This study was supported by the Special Coordination Funds for Promoting Science and Technology, from the Ministry of Education, Culture, Sports, Science and Technology, Japan (to Y.S.) and by an MPP grant from the American University of Beirut, Lebanon (to M.K.).
Conflicts of interest: none declared.
Madam, Hereditary leuconychia, also known as white or porcelain nails, is a rare genetic disease characterized by whitening of the nail plate of all 20 nails. The condition can be associated with other cutaneous or systemic manifestations, while an isolated leuconychia (MIM 151600) also exists, which can show either an autosomal dominant or recessive inheritance pattern.1 We (M.K. and Y.S.) have recently identified mutations in the PLCD1 gene on chromosome 3p22.2 in several Pakistani families with either autosomal dominant or recessive isolated leuconychia.2 The human PLCD1 gene encodes a subunit of phospholipase C, and is abundantly expressed in the nail matrix.2, 3 Apart from these findings, the molecular basis of hereditary leuconychia in other populations, as well as functional consequences resulting from PLCD1 mutations, remain largely unknown.
