| Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome. | Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome.
Negrete-Torres N, Chima-Galán MDC, Sierra-López EA, Sánchez-Ramos J, Álvarez-González I, Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Amato D, Méndez-Catalá CF, Pozo-Molina G, Méndez-Cruz AR., Free PMC Article | 05/5/2023 |
| Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations. | Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.
Kantaputra P, Dejkhamron P, Sittiwangkul R, Katanyuwong K, Ngamphiw C, Sonsuwan N, Intachai W, Tongsima S, Beales PL, Buranaphatthana W., Free PMC Article | 02/11/2023 |
| Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution. | Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.
Gokhman D, Agoglia RM, Kinnebrew M, Gordon W, Sun D, Bajpai VK, Naqvi S, Chen C, Chan A, Chen C, Petrov DA, Ahituv N, Zhang H, Mishina Y, Wysocka J, Rohatgi R, Fraser HB., Free PMC Article | 04/24/2021 |
| Novel mutation in EFCAB7 alters expression and interaction with EVC2 protein. | Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins.
Nguyen TQN, Doan NMT, Trinh HT, Mizuguchi M. | 07/13/2019 |
| Novel Wnt10A mutations (c.521T>C and c.653T>G) and EVC2 mutation (c.1472C>T) were identified in families with selective tooth agenesis. The Wnt10A c.521T>C mutation and the EVC2 c.1472C>T mutation were considered as pathogenic for affecting highly conserved amino acids, co-segregated with phenotype and predicted to be disease-causing by SIFT and PolyPhen2. | Novel mutations identified in patients with tooth agenesis by whole-exome sequencing.
Zhao K, Lian M, Zou D, Huang W, Zhou W, Shen Y, Wang F, Wu Y. | 07/6/2019 |
| he whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene. | Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
Umair M, Seidel H, Ahmed I, Ullah A, Haack TB, Alhaddad B, Jan A, Rafique A, Strom TM, Ahmad F, Meitinger T, Ahmad W. | 08/4/2018 |
| we detected two novel nonsense mutations and a partial deletion of EVC/EVC2 in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related disorders. | Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
Nguyen TQ, Saitoh M, Trinh HT, Doan NM, Mizuno Y, Seki M, Sato Y, Ogawa S, Mizuguchi M. | 02/18/2017 |
| sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families.. | Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.
Aziz A, Raza SI, Ali S, Ahmad W. | 10/1/2016 |
| Sequencing of both EVC and EVC2 identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC, which were inherited from mother and father, respectively. | Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.
Shi L, Luo C, Ahmed MK, Attaie AB, Ye X. | 08/13/2016 |
| Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS disease genes-C5orf42, EVC2 and SEC8 (also known as EXOC4), which encodes an exocyst protein with an established role in ciliogenesis | Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi W, Al-Rasheed S, Alkuraya FS., Free PMC Article | 11/16/2013 |
| we identified 2 independent mutations in EVC2 gene in patients with WAD, including one novel. | Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A. | 07/20/2013 |
| Identification of a novel genotype in EvC will provide clues to phenotype-genotype relations and may assist not only in the clinical diagnosis of EvC but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling | Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.
Zhang Z, Bao K, He JW, Fu WZ, Zhang CQ, Zhang ZL. | 01/26/2013 |
| Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes. | Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.
Hills CB, Kochilas L, Schimmenti LA, Moller JH. | 04/14/2012 |
| In this study, two novel heterozygous EVC2 mutations, IVS 5-2A > G and c.2653C > T (Arg88 5X), were identified in the patient; the IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father | Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.
Shen W, Han D, Zhang J, Zhao H, Feng H. | 02/11/2012 |
| Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects. | Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling.
Chen CP, Su YN, Hsu CY, Chern SR, Tsai FJ, Wu PC, Chen PT, Wang W. | 04/30/2011 |
| STK32b, EVC and EVC2 genes yielded suggestive evidence for linkage and disepuilibrium among cleft palate trios. | Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH, Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH., Free PMC Articles: PMC2874614, PMC2874614 | 09/13/2010 |
| A novel splice site mutation (c.2047-1G>T) in intron 13 of EVC2 gene was found in a family with child diagnosed with Ellis-van Creveld syndrome in the United Arab Emirates. | Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
Ali BR, Akawi NA, Chedid F, Bakir M, Ur Rehman M, Rahmani A, Al-Gazali L., Free PMC Article | 05/10/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH, Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH., Free PMC Articles: PMC2874614, PMC2874614 | 04/7/2010 |
| The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog signal transduction in NIH 3T3 cells in keeping with its dominant effect. | Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL. | 02/8/2010 |
| EVC and LBN play roles in cardiovascular development and disease. | Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.
Sund KL, Roelker S, Ramachandran V, Durbin L, Benson DW., Free PMC Article | 01/21/2010 |
| In a consanguineous pedigree diagnosed with EvC and borderline intelligence, a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between LINE-1 elements, was detected | Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.
Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SM, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL. | 01/21/2010 |
| Mutations in this gene cause Ellis-van Creveld syndrome. | Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA., Free PMC Article | 01/21/2010 |
| Data provide conclusive evidence that Weyers acrofacial dysostosis and EvC syndrome are allelic and genetically heterogeneous conditions. | A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z. | 01/21/2010 |
| EVC2 is mutated in an Ashkenazi individual with Ellis-van Creveld syndrome | A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.
Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA, Ginns EI. | 01/21/2010 |