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Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.

Congenital anomalies - 1 Sept 2016

Nguyen Tran Quynh Nhu, Saitoh Makiko, Trinh Huu Tung, Doan Nguyen Minh Thien, Mizuno Yoko, Seki Masafumi, Sato Yusuke, Ogawa Seishi, Mizuguchi Masashi

Abstract excerpt

Ellis-van Creveld syndrome (EvC) is a ciliopathy with cardiac anomalies, disproportionate short stature, polydactyly, dystrophic nails and oral defects. To obtain further insight into the genetics of EvC, we screened EVC/EVC2 mutations in eight Vietnamese EvC patients. All the patients had a congenital heart defect with atypical oral and/or skeletal abnormalities. One had compound heterozygous EVC2 mutations: a...

Topics

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Calcium-Binding Proteins
Consanguinity
Ellis-Van Creveld Syndrome
Intercellular Signaling Peptides and Proteins
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Sequence Deletion

Source

Identifiers

PMID: 26748586
DOI: 10.1111/cga.12155

Genes

EVC
EVC2
EFCAB7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.PMID 26748586Read ↗

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.Semantic proximity Read ↗

Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome.Semantic proximity Read ↗

Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.Semantic proximity Read ↗

Ellis-van Creveld syndrome due to a novel EVC2 variant in a patient from TurkeySemantic proximity Read ↗

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.Semantic proximity Read ↗

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.Semantic proximity Read ↗

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.Semantic proximity Read ↗

Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.Semantic proximity Read ↗

Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.Semantic proximity Read ↗

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.Semantic proximity Read ↗

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.Semantic proximity Read ↗

A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.Semantic proximity Read ↗

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