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One recurrent heterozygous mutation of the PLCD1 gene in a Chinese family with hereditary leukonychia: A case report and genotype–phenotype correlation analysis
Fang Zhang,
Fang Zhang
West China School of Medicine, Sichuan University, Chengdu, China
Search for more papers by this author Yusha Chen,
Yusha Chen
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Search for more papers by this author Deyu Song,
Deyu Song
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Search for more papers by this author Sheng Wang,
Corresponding Author
Sheng Wang
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Correspondence
Sheng Wang, Department of Dermatology, West China Hospital, Sichuan University, Chengdu 610041, China.
Email: [email protected]
Search for more papers by this author
Fang Zhang,
Fang Zhang
West China School of Medicine, Sichuan University, Chengdu, China
Search for more papers by this author Yusha Chen,
Yusha Chen
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Search for more papers by this author Deyu Song,
Deyu Song
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Search for more papers by this author Sheng Wang,
Corresponding Author
Sheng Wang
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Correspondence
Sheng Wang, Department of Dermatology, West China Hospital, Sichuan University, Chengdu 610041, China.
Email: [email protected]
Search for more papers by this author
First published: 16 February 2023
No abstract is available for this article.
REFERENCES
- 1Khan T, Khan M, Yousaf A, Khan S, Naeem M, Shah A, et al. Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family. J Hum Genet. 2018; 63: 1071–6.
- 2Khan AK, Khan SA, Muhammad N, Muhammad N, Ahmad J, Nawaz H, et al. Mutation in phospholipase C, δ1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature. Balkan J Med Genet. 2018; 21: 69–72.
- 3Mir H, Khan S, Arif MS, Ali G, Wali A, Ansar M, et al. Mutations in the gene phospholipase C, delta-1 (PLCD1) underlying hereditary leukonychia. Eur J Dermatol. 2012; 22: 736–9.
- 4Cai J, Guo S, Lomasney JW, Roberts MF. Ca2+−independent binding of anionic phospholipids by phospholipase C δ1 EF-hand domain. J Biol Chem. 2013; 288: 37277–88.
