PDF(Pubmed)
Abstract：
BACKGROUND: 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.
METHODS: 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].
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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].
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：Ellis-vanCreveld综合征（EvCS）是由纤毛复合物亚基1和2基因的种系致病变异引起的软骨外胚层发育不良（EVC，EVC2)在染色体4p16.2上。这种疾病具有广泛的表型，并且很少有描述的表型-基因型相关性。
方法：道德遵从性：获得父母的书面知情同意书。这里,我们报告了一名经遗传证实的墨西哥EvCS患者，在EVC2中具有两种遗传的反式致病变异：c。[1195C>T]；[2161delC]。
结果：该患者允许与另一位表现出更减毒表型的墨西哥受试者进行基因型-表型比较；此外，我们的病人还出现了腭裂，很少报道的特征。
结论：我们的案例显示了比较患者表型之间功能半合子的重要性，我们的病例也支持上颚改变作为EvCS表型的一部分的关联。
方法：道德遵从性：获得父母的书面知情同意书。这里,我们报告了一名经遗传证实的墨西哥EvCS患者，在EVC2中具有两种遗传的反式致病变异：c。[1195C>T]；[2161delC]。
结果：该患者允许与另一位表现出更减毒表型的墨西哥受试者进行基因型-表型比较；此外，我们的病人还出现了腭裂，很少报道的特征。
结论：我们的案例显示了比较患者表型之间功能半合子的重要性，我们的病例也支持上颚改变作为EvCS表型的一部分的关联。
