{Reference Type}: Case Reports
{Title}: Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.
{Author}: León-Madero LF;Fregoso-Ron CH;De León-Carbajal JC;Valdés-Miranda JM;
{Journal}: Mol Genet Genomic Med
{Volume}: 12
{Issue}: 5
{Year}: 2024 May
{Factor}: 2.473
{DOI}: 10.1002/mgg3.2451
{Abstract}: <B>BACKGROUND: </B>Ellis-van Creveld syndrome (EvCS) is a chondroectodermal dysplasia caused by germline pathogenic variants in ciliary complex subunit 1 and 2 genes (EVC, EVC2) on chromosome 4p16.2. This disease has a broad phenotype, and there are few described phenotype-genotype correlations.<BR><B>METHODS: </B>Ethical Compliance: Written informed consent was obtained from the parents. Here, we report a genetically confirmed Mexican patient with EvCS having two inherited pathogenic variants in trans in EVC2: c.[1195C>T];[2161delC].<BR><B>RESULTS: </B>This patient allowed a genotypic-phenotypic comparison with another Mexican subject who presented a more attenuated phenotype; furthermore, our patient also presented cleft palate, a rarely reported feature.<BR><B>CONCLUSIONS: </B>Our case shows the importance of comparing functional hemizygosity between patient's phenotypes when they share a variant, and our case also supports the association of alterations in the palate as part of the EvCS phenotype.