Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing

Abstract Background Classical Ehlers–Danlos syndrome (cEDS) is a connective tissue disorder mainly caused by heterozygous COL5A1 or COL5A2 variants encoding type V collagen and rarely by the p.(Arg312Cys) missense substitution in COL1A1 encoding type I collagen. The current EDS nosology specifies th...

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Bibliographic Details
Main Authors: Marco Ritelli, Valeria Cinquina, Marina Venturini, Marina Colombi
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
atrophic scars
classical Ehlers–Danlos syndrome
COL5A1
next generation sequencing
Sanger sequencing
skin hyperextensibility
Online Access:https://doi.org/10.1002/mgg3.1422

Internet

https://doi.org/10.1002/mgg3.1422

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