Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.

ABSTRACT:

Background

Ehlers Danlos Syndrome is a rare form of inherited connective tissue disorder, which primarily affects skin, joints, muscle, and blood cells. The current study aimed at finding the mutation that causing EDS type VII C also known as "Dermatosparaxis" in this family.

Methods

Through systematic data querying of the electronic medical records (EMRs) of over 80,000 individuals, we recently identified an EDS family that indicate an autosomal dominant inheritance. The family was consented for genomic analysis of their de-identified data. After a negative screen for known mutations, we performed whole genome sequencing on the male proband, his affected father, and unaffected mother. We filtered the list of non-synonymous variants that are common between the affected indiv

SUBMITTER: Desai A 

PROVIDER: S-EPMC4754938 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature