Article
Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome.
Genes - 9 Apr 2023
Negrete-Torres Nancy, Chima-Galán María Del Carmen, Sierra-López Ernesto Antonio, Sánchez-Ramos Janet, Álvarez-González Isela, Reyes-Reali Julia, Mendoza-Ramos María Isabel, Garrido-Guerrero Efraín, Amato Dante, Méndez-Catalá Claudia Fabiola, Pozo-Molina Glustein, Méndez-Cruz Adolfo René
Abstract excerpt
BACKGROUND: Ellis-van Creveld syndrome (EvCS) is an autosomal recessive ciliopathy with a disproportionate short stature, polydactyly, dystrophic nails, oral defects, and cardiac anomalies. It is caused by pathogenic variants in the EVC or EVC2 genes. To obtain further insight into the genetics of EvCS, we identified the genetic defect for the EVC2 gene in two Mexican patients. METHODS: Two Mexican families were...
Topics
- Humans
- Female
- Membrane Proteins
- Intercellular Signaling Peptides and Proteins
- Ellis-Van Creveld Syndrome
- Pedigree
- Mutation
- Codon, Nonsense