%0 Case Reports
%T Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.
%A León-Madero LF
%A Fregoso-Ron CH
%A De León-Carbajal JC
%A Valdés-Miranda JM
%J Mol Genet Genomic Med
%V 12
%N 5
%D 2024 May
%M 38760995
%F 2.473
%R 10.1002/mgg3.2451
%X <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.