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

ABSTRACT:

Background

Neural tube defect (NTD) is a common birth defect causing much death in the world. Variants in VANGL1 lead to NTD and caudal regression syndrome. NTD displays a complex phenotype encompassing both genetic and environmental factors.

Methods

The fetus was diagnosed by prenatal ultrasound examination. Postnatal CT and autopsy were performed. Genetic testing was conducted in the family and Sanger sequencing was validated. Multiple prediction soft-wares were used to predict the pathogenicity of the variant.

Results

The VANGL1 gene variant c.1151C>G (P384R) was detected in a fetus diagnosed with tethered spinal cord and sacrococcygeal lipoma. The VANGL1 variant c.1151C>G (P384R) was reported in a Klippel-Feil syndrome patient. The VANGL1 variant was validated in

SUBMITTER: Cheng C 

PROVIDER: S-EPMC8372072 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature