One recurrent heterozygous mutation of the PLCD1 gene in a Chinese family with hereditary leukonychia: A case report and genotype–phenotype correlation analysis

中国 医学 传统医学 大学医院 门诊部 基因型 中医药 家庭医学 历史 遗传学 内科学 生物 基因 病理 考古 替代医学
作者
Zhang Fang,Yusha Chen,Deyu Song,Sheng Wang
出处
期刊:Journal of Dermatology [Wiley]
卷期号:50 (8) 被引量:3
标识
DOI:10.1111/1346-8138.16753
摘要

The Journal of DermatologyVolume 50, Issue 8 p. e230-e231 LETTER TO THE EDITOR 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 orcid.org/0000-0002-9707-6524 West China School of Medicine, Sichuan University, Chengdu, ChinaSearch for more papers by this authorYusha Chen, Yusha Chen orcid.org/0000-0002-2662-743X Department of Dermatology, West China Hospital, Sichuan University, Chengdu, ChinaSearch for more papers by this authorDeyu Song, Deyu Song orcid.org/0000-0001-9514-0740 Department of Dermatology, West China Hospital, Sichuan University, Chengdu, ChinaSearch for more papers by this authorSheng Wang, Corresponding Author Sheng Wang [email protected] 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 orcid.org/0000-0002-9707-6524 West China School of Medicine, Sichuan University, Chengdu, ChinaSearch for more papers by this authorYusha Chen, Yusha Chen orcid.org/0000-0002-2662-743X Department of Dermatology, West China Hospital, Sichuan University, Chengdu, ChinaSearch for more papers by this authorDeyu Song, Deyu Song orcid.org/0000-0001-9514-0740 Department of Dermatology, West China Hospital, Sichuan University, Chengdu, ChinaSearch for more papers by this authorSheng Wang, Corresponding Author Sheng Wang [email protected] 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 https://doi.org/10.1111/1346-8138.16753Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat 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. 10.1038/s10038-018-0491-2 PubMedWeb of Science®Google Scholar 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. 10.2478/bjmg-2018-0001 CASPubMedWeb of Science®Google Scholar 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. 10.1684/ejd.2012.1852 CASPubMedWeb of Science®Google Scholar 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. 10.1074/jbc.M113.512186 CASPubMedWeb of Science®Google Scholar Volume50, Issue8August 2023Pages e230-e231 ReferencesRelatedInformation
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