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Next Generation Mendelian Genetics: Ehlers-Danlos Syndrome Type VIII

ABSTRACT:

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.

PROVIDER: phs000540 | dbGaP |

SECONDARY ACCESSION(S): PRJNA174112PRJNA174111

REPOSITORIES: dbGaP

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Dataset's files

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			Action	DRS
	GapExchange_phs000540.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs000540.Mendelian_EDS_VIII.v1.p1.MULTI.pdf	Pdf
	manifest_phs000540.Mendelian_EDS_VIII.v1.p1.c2.DCT.pdf	Pdf
	datadict_v2.xsl	Other

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Next Generation Mendelian Genetics: Ehlers-Danlos Syndrome Type VIII

Project description: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.

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