Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome

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Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome

机译：在两个常染色体隐性Ellis-van Creveld综合征分离的近亲家庭中，EVC和EVC2基因的新型纯合突变

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Ellis-van Creveld syndrome (EVC) is a rare developmental disorder characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, teeth, oral and cardiac abnormalities. It is caused by biallelic mutations in the EVC or EVC2 gene, separated by 2.6kb of genomic sequence on chromosome 4p16. In the present study, we have investigated two consanguineous families of Pakistani origin, segregating EVC in autosomal recessive manner. Linkage in the families was established to chromosome 4p16. Subsequently, sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15bp duplication in exon 14 of the EVC gene in the two families. This further expands the mutations in the EVC or EVC2 genes resulting in the EVC syndrome. Copyright (C) 2015 Wolters Kluwer Health, Inc. All rights reserved.

机译：Ellis-van Creveld综合征（EVC）是一种罕见的发育障碍，其特征是四肢短，肋骨短，后轴多指，指甲发育异常，牙齿，口腔和心脏异常。它是由EVC或EVC2基因中的双等位基因突变引起的，该突变由4p16染色体上的2.6kb基因组序列隔开。在本研究中，我们调查了巴基斯坦血统的两个近亲家庭，以常染色体隐性方式分离EVC。在家庭中建立了与4p16染色体的联系。随后，序列分析鉴定了两个家族中EVC2基因第8外显子的新的无意义突变（p.Trp234 *）和EVC基因第14外显子的15bp重复。这进一步扩大了EVC或EVC2基因中的突变，从而导致EVC综合征。版权所有（C）2015 Wolters Kluwer Health，Inc.保留所有权利。

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《Clinical dysmorphology》 |2016年第1期|共6页
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正文语种 eng
中图分类妇产科学;
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15bp duplication; EVC and EVC2 genes; EVC syndrome; nonsense mutation;

机译：15bp重复;EVC和EVC2基因;EVC综合征;无意义突变;

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专利

1. Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome [J] . Clinical dysmorphology . 2016,第1期

机译：在两个常染色体隐性Ellis-van Creveld综合征分离的近亲家庭中，EVC和EVC2基因的新型纯合突变
2. Two Novel Heterozygous Mutations of EVC2 Cause a Mild Phenotype of Ellis-van Creveld Syndrome in a Chinese Family [J] . Wenjing Shen, 1 Dong Han, 1 Jin Zhang, American journal of medical genetics, Part A . 2011,第9期

机译：两个新的EVC2杂合突变导致中国家庭中Ellis-van Creveld综合征的轻型表型
3. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. [J] . Tompson SW, Ruiz-Perez VL, Blair HJ, Human Genetics . 2007,第5期

机译：测序EVC和EVC2可在三分之二的Ellis-van Creveld综合征患者中鉴定出突变。
4. Autosomal recessive hypercholesterolemia: genetics and clinical aspects [C] . Giovanni Zuliani, Renato Fellin European Symposium on Metabolism . 2003

机译：常染色体隐性高胆固醇血症：遗传学和临床方面
5. A molecular genetic characterization of Ellis-van Creveld (EvC) syndrome. [D] . Galdzicka, Marzena. 2003

机译：Ellis-van Creveld（EvC）综合征的分子遗传学特征。
6. Phenotypic Variation in Patients with Homozygous c.1678GT Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome [O] . Marisol Ibarra-Ramirez, Luis Daniel Campos-Acevedo, Jose Lugo-Trampe, 2017

机译：EVC基因纯合子c.1678G T突变患者的表型变异：两个墨西哥家庭的埃利斯·凡·克鲁德综合征的报告
7. Combining gene mapping and phenotype assessment for fast mutation finding in non consanguineous autosomal recessive retinitis pigmentosa : mutation finding in non consanguineous families [O] . Hébrard, Maxime, Bocquet, Béatrice, Meunier, Isabelle, 2011

机译：结合基因定位和表型评估在非近亲常染色体隐性色素性视网膜炎中快速发现突变：在非近亲家族中发现突变

Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome

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