AI Article Synopsis
- - Ellis-van Creveld syndrome (EvC) is linked to mutations in two genes, EVC and EVC2, which are closely located and were studied in a group of 65 individuals.
- - The research found mutations in EVC in 20 cases (31%) and in EVC2 in 25 cases (38%), with most mutations leading to premature stop signals in protein production.
- - In 20 cases (31%) where no mutations were found in either gene, it suggests there may be additional genetic factors contributing to the syndrome.
Article 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.
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| http://dx.doi.org/10.1007/s00439-006-0237-7 | DOI Listing |
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