Next Generation Mendelian Genetics: Ehlers-Danlos Syndrome Type VIII

The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. Ehlers-Danlos syndrome Type VIII is a dominantly inherited connective tissue disorder that is distinguished from other forms of EDS by significant early-onset periodontal disease. Although the clinical phenotype is well delineated, the underlying molecular basis remains unknown. By studying a large family of affected and unaffected individuals with the EDS VIII by exome sequencing, we hope to identify unique regions of homology to assist in identifying the causative gene. ]]> This is a single family with the clinical phenotype of EDS VIII. Individuals were examined by a clinical geneticist. Unique features of EDS VIII include early onset periodontal disease and significant bruising and staining of shins. Only family members with these features were included as "affected". ]]> Identification of this large family of affected and unaffected individuals with EDS VIII gives us an opportunity to expand on our limited understanding of this rare form of EDS using the new exome sequencing approach.]]>