The VANGL1 P384R variant cause both neural tube defect and Klippel ‐Feil syndrome

ConclusionOverall, this study presents fetal NTD caused by the sameVANGL1 variant found in a Klippel-Feil syndrome patient with complete clinical information of prenatal ultrasound, postnatal CT, and genetic results as early as 25 GW. Our study not only expands theVANGL1 mutational spectrum but also sheds light on the important role of theVANGL1 P384R variant in human development.

Source: Molecular Genetics & Genomic Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Chen Cheng, Sheng Zhao, Xia Zhu, Fan Yang, Weiyun Wang, Qian Feng, Ya Liu, Hui Huang, Xinlin Chen Tags: CLINICAL REPORT Source Type: research