Study of a Family with Ellis van Creveld Syndrome and a Mutation in the EVC Gene
Author Information
Author(s): Ulucan Hakan, Gül Davut, Sapp Julie C, Cockerham John, Johnston Jennifer J, Biesecker Leslie G
Primary Institution: National Human Genome Research Institute, NIH
Hypothesis
Mutations in the EVC gene can cause a broad range of clinical phenotypes, including cardiac and limb defects.
Conclusion
The identified EVC mutation is hypomorphic and can lead to less severe phenotypes than typical Ellis van Creveld syndrome.
Supporting Evidence
- The EVC mutation identified was homozygous in affected individuals.
- Affected individuals exhibited cardiac defects and polydactyly without typical features of Ellis van Creveld syndrome.
- The study suggests that EVC mutation analysis should be considered in patients with cardiac and limb malformations.
Takeaway
This study looked at a family with a rare genetic condition and found a gene change that can cause heart and limb problems, even if they don't have all the usual symptoms.
Methodology
Microsatellite markers were used for linkage analysis, followed by sequencing for mutations in the EVC gene.
Limitations
The study is limited to a single family, which may not represent the broader population.
Participant Demographics
The family is of Turkish descent, with consanguineous marriages noted.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website