Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.

IF 1.5 4区医学 Q4 GENETICS & HEREDITY Molecular Genetics & Genomic Medicine Pub Date : 2024-05-01 DOI:10.1002/mgg3.2451

Luis Felipe León-Madero, Cesar Humberto Fregoso-Ron, Juan Carlos De León-Carbajal, Juan Manuel Valdés-Miranda

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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.

Conclusion: 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.

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患有埃利斯-范克里夫德综合征和腭裂的墨西哥患者：功能性半杂合子和表型扩展的重要性。

背景：埃利斯-范克里夫德综合征（EvCS）是一种软骨发育不良，由染色体4p16.2上的纤毛复合体亚基1和2基因（EVC、EVC2）的种系致病变异引起。这种疾病具有广泛的表型，很少有表型与基因型相关的描述：符合伦理要求：方法：符合伦理要求：已获得父母的书面知情同意。在此，我们报告了一名经遗传学确诊的墨西哥 EvCS 患者，其 EVC2 有两个反式遗传致病变异：c. [1195C>T]; [2161delC]：该患者与另一名墨西哥患者进行了基因型与表型的比较，后者的表型更为弱化；此外，我们的患者还出现了腭裂，这是一种很少报道的特征：结论：我们的病例表明，当患者的表型具有相同的变异时，比较其功能性半杂合子的重要性，我们的病例还支持将腭裂的改变作为 EvCS 表型的一部分。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.