Ellis-van Creveld Syndrome

NewsRx Bundle A quick and inexpensive way to view the most recent articles for a one-time project. Custom Reports on Ellis-van Creveld Syndrome Tired of prepackaged reports that just don't meet your needs? Target your needs!

What is Ellis-van Creveld syndrome?

Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in short stature (dwarfism). People with this condition have particularly short forearms and lower legs and short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), unusually formed nails and teeth, and heart defects.

How common is Ellis-van Creveld syndrome?

In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population. This condition is much more common in the Old Order Amish population of Lancaster County, Pennsylvania and in the indigenous population of Western Australia.

What genes are related to Ellis-van Creveld syndrome?

Mutations in the EVC and EVC2 genes cause Ellis-van Creveld syndrome.

Researchers have not determined the functions of the EVC and EVC2 genes, but they have identified mutations in both genes that can cause Ellis-van Creveld syndrome. Most of these mutations result in the production of abnormally small, nonfunctional versions of the EVC or EVC2 proteins. How mutations in these genes lead to dwarfism and other features of Ellis-van Creveld syndrome remains unclear.

How do people inherit Ellis-van Creveld syndrome?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.

Source: National Institutes of Health

Scientists at Newcastle University, Institute of Human Genetics publish research in ellis-van creveld syndrome genetics

"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," wrote S.W. Tompson and colleagues, Newcastle University, Institute of Human Genetics.

The researchers concluded: "As we have not identified mutations in either gene in 20 cases (31%) it is possible that there is further genetic heterogeneity."

Tompson and colleagues published their study in Human Genetics (Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Human Genetics, 2007;120(5):663-70).

For additional information, contact S.W. Tompson, Institute of Human Genetics, Newcastle University, Central parkway, Newcastle upon Tyne, UK.

Publisher contact information for the journal Human Genetics is: Springer, 233 Spring Street, New York, NY 10013, USA.

Keywords: United Kingdom, Ellis-Van Creveld Syndrome Genetics, Ellis-Van Creveld Syndrome, Genetics.

This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.