Medical Genetics Department, Hospital General de México Dr. Eduardo Liceaga, Mexico City, Mexico.
Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Mol Genet Genomic Med. 2024 May;12(5):e2451. doi: 10.1002/mgg3.2451.
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.
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].
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.
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.
Ellis-van Creveld 综合征（EvCS）是一种软骨外胚层发育不良，由纤毛复合体亚单位 1 和 2 基因（EVC、EVC2）在 4p16.2 上的种系致病性变异引起。这种疾病有广泛的表型，描述的表型-基因型相关性很少。
伦理合规：已从父母处获得书面知情同意。在这里，我们报告了一名经基因证实的墨西哥患者，其 EVC2 中存在两个遗传性致病性变异：c.[1195C>T];[2161delC]。
该患者允许与另一名具有更轻微表型的墨西哥受试者进行基因型-表型比较；此外，我们的患者还存在腭裂，这是一种罕见的特征。
我们的病例表明，当患者具有相同的变异时，比较其表型之间功能性半合子的重要性，并且我们的病例还支持腭改变作为 EvCS 表型的一部分的关联。
