Molecular Mechanisms of Classical Ehlers-Danlos Syndrome (EDS)

Overview

Journal Hum Mutat

Specialty Genetics

Date 2009 Apr 17

PMID 19370768

Citations 19

Authors

Anna L Mitchell

Ulrike Schwarze

Jessica F Jennings

Peter H Byers

Affiliations

Soon will be listed here.

Abstract

Classical Ehlers-Danlos syndrome (EDS) is a heritable disorder characterized by joint hypermobility, skin hyperextensibility, and abnormal wound healing. The majority of affected individuals have alterations in 1 of the 2 type V collagen genes, COL5A1 and COL5A2. The most common mechanism is COL5A1 haploinsufficiency due to instability of the transcript of one allele. In dermal fibroblasts from our population of 76 individuals with clinical features of classical EDS, there were 21 (29.5%) with decreased expression of one COL5A1 allele, consistent with published estimates of the frequency of null alleles. We identified the causative mutation in nine of these cell strains (mutations for seven others had been previously described), and found two nonsense mutations, five splice mutations, and two insertion/deletions. The same type of genomic change at splice sites can have different effects at the RNA level and the outcome could not be predicted from the primary genomic DNA alteration.

Citing Articles

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Management of 2-Stage Breast Reconstruction in Ehlers-Danlos Syndrome: A Case Report.

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Fajardo-Jimenez M, Tejada-Moreno J, Mejia-Garcia A, Villegas-Lanau A, Zapata-Builes W, Restrepo J Genes (Basel). 2022; 13(11).

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