A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation,BioMed Research International

当前位置： X-MOL 学术 › BioMed Res. Int. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation
BioMed Research International ( IF 3.246 ) Pub Date : 2020-11-26 , DOI: 10.1155/2020/4215632
Hao Geng _{1,

2,

3} , Dongdong Tang _{1,

2,

3} , Chuan Xu _{1,

2,

3} , Xiaojin He _{1,

2,

3} , Zhiguo Zhang _{1,

2,

3}

Affiliation

Background. Split-hand/foot malformation (SHFM) is a severe congenital disability mainly characterized by the absence or hypoplasia of the central ray of the hand/foot. To date, several candidate genes associated with SHFM have been identified, including TP63, DLX5, DLX6, FGFR1, and WNT10B. Herein, we report a novel variant of TP63 heterozygously present in affected members of a family with SHFM. Methods. This study investigated a Chinese family, in which the proband and his son suffered from SHFM. The peripheral blood sample of the proband was used to perform whole-exome sequencing (WES) to explore the possible genetic causes of this disease. Postsequencing bioinformatic analyses and Sanger sequencing were conducted to verify the identified variants and parental origins on all family members in the pedigree. Results. By postsequencing bioinformatic analyses and Sanger sequencing, we identified a novel missense variant (NM_003722.4:c.948G>A; p.Met316Ile) of TP63 in this family that results in a substitution of methionine with isoleucine, which is probably associated with the occurrence of SHFM. Conclusion. A novel missense variant (NM_003722.4:c.948G>A; p.Met316Ile) of TP63 in SHFM was thus identified, which may enlarge the spectrum of known TP63 variants and also provide new approaches for genetic counselling of families with SHFM.

更新日期：2020-11-27

点击分享查看原文

点击收藏

公开下载

阅读更多本刊最新论文本刊介绍/投稿指南

全部期刊列表>>