Affiliation:
1. Prenatal Diagnosis Center Quanzhou Women's and Children's Hospital Quanzhou China
2. Department of Neurology The Second Affiliated Hospital of Fujian Medical University Quanzhou China
3. Department of Ultrasound Quanzhou Women's and Children's Hospital Quanzhou China
4. Department of Gynecology Quanzhou Women's and Children's Hospital Quanzhou China
5. Quanzhou Women's and Children's Hospital Quanzhou China
Abstract
AbstractBackgroundPathogenic 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.MethodsA 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.ResultsChromosome 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.ConclusionsThe 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.
Funder
Fujian Provincial Health Technology Project
Subject
Genetics (clinical),Genetics,Molecular Biology