Human Genetics

, Volume 120, Issue 5, pp 663–670

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

  • Stuart W. J. Tompson
  • Victor L. Ruiz-Perez
  • Helen J. Blair
  • Stephanie Barton
  • Victoria Navarro
  • Joanne L. Robson
  • Michael J. Wright
  • Judith A. Goodship
Original Investigation
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Abstract

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.

Supplementary material

439_2006_237_MOESM1_ESM.doc (109 kb)
Supplementary material

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Stuart W. J. Tompson
    • 1
  • Victor L. Ruiz-Perez
    • 2
  • Helen J. Blair
    • 1
  • Stephanie Barton
    • 1
  • Victoria Navarro
    • 1
  • Joanne L. Robson
    • 1
  • Michael J. Wright
    • 1
  • Judith A. Goodship
    • 1
  1. 1.Institute of Human GeneticsNewcastle UniversityNewcastle upon TyneUK
  2. 2.Centro de Investigaciones BiológicasConsejo Superior de Investigaciones CientíficasMadridSpain

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