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Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients

Lookup NU author(s): Dr Stuart Tompson, Dr Victor Ruiz-Perez, Dr Helen Blair, Dr Michael Wright, Professor Judith Goodship


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Ellis-van Creveld syndrome (EvC) is caused by mutations in EVC and EVC2, genes in a divergent orientation separated by only 2.6 kb. We systematically sought mutations in both genes in a panel of 65 affected individuals to assess the proportion of cases resulting from mutations in each gene. We PCR amplified and sequenced the coding exons of both genes. We investigated mutations that could affect splicing by in vitro splicing assays and cDNA analysis. We have identified EVC mutations in 20 cases (31%); in all of these we have detected the mutation on each allele. We have identified EVC2 mutations in 25 cases (38%); in 22 of these we have isolated a mutation on each allele. The majority of the mutations introduce a premature termination codon. We sequenced the region between the two genes in 10 of the 20 cases in which we had not identified a mutation in either gene, revealing only one SNP that was not a common polymorphism. As we have not identified mutations in either gene in 20 cases (31%) it is possible that there is further genetic heterogeneity. © Springer-Verlag 2006.

Publication metadata

Author(s): Tompson SWJ, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA

Publication type: Article

Publication status: Published

Journal: Human Genetics

Year: 2007

Volume: 120

Issue: 5

Pages: 663-670

Print publication date: 01/01/2007

ISSN (print): 0340-6717

ISSN (electronic): 1432-1203

Publisher: Springer


DOI: 10.1007/s00439-006-0237-7

PubMed id: 17024374


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