A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.

ABSTRACT:

Background

Ellis-van Creveld (EvC) syndrome, caused by variants in EVC, is a rare genetic skeletal dysplasia. Its clinical phenotype is highly diverse. EvC syndrome is rarely reported in prenatal stages because its presentation overlaps with other diseases.

Methods

A Chinese pedigree diagnosed with EvC syndrome was enrolled in this study. Whole-exome sequencing (WES) was applied in the proband to screen potential genetic variant(s), and then Sanger sequencing was used to identify the variant in family members. Minigene experiments were applied.

Results

WES identified a homozygous variant (NM_153717.3:c.153_174 + 42del) in EVC which was inherited from the heterozygous parents and confirmed by Sanger sequencing. Further experiments demonstrated that this variant disrupt

SUBMITTER: Wang J 

PROVIDER: S-EPMC10422067 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature