{Reference Type}: Journal Article
{Title}: Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.
{Author}: Zhuang J;Liu S;Wang J;Chen Y;Zhang H;Jiang Y;Wang G;Chen C;
{Journal}: Mol Genet Genomic Med
{Volume}: 11
{Issue}: 10
{Year}: 2023 Oct 23
{Factor}: 2.473
{DOI}: 10.1002/mgg3.2242
{Abstract}: <B>BACKGROUND: </B>Pathogenic mutations in EVC or EVC2 gene can lead to Ellis-van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder. This study aimed to determine pathogenic gene variations associated with EvC syndrome in fetuses showing ultrasound anomalies.<BR><B>METHODS: </B>A 32-year-old pregnant woman from Quanzhou, China was investigated. In her pregnancy examination, the fetus exhibited multiple fetal malformations, including a narrow thorax, short limbs, postaxial polydactyly, cardiac malformations, and separation of double renal pelvis. Karyotype, chromosomal microarray analysis and whole exome sequencing were performed for prenatal genetic etiology analysis.<BR><B>RESULTS: </B>Chromosome abnormalities and copy number variants were not observed in the fetus using karyotype and chromosomal microarray analysis. Using whole exome sequencing, two compound heterozygous variants NM_147127.5:c.[2484G>A(p.Trp828Ter)];[871-2_894del] in EVC2 gene were identified in the fetus as pathogenic variants inherited from parents.<BR><B>CONCLUSIONS: </B>The study is the first to identify two rare compound variants in EVC2 gene in a Chinese family using whole exome sequencing. The application of whole-exome sequencing would be helpful in fetal etiological diagnosis with ultrasound anomalies.