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Article

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.

Molecular genetics & genomic medicine - 1 Sept 2020

Nixon Thomas, Richards Allan J, Lomas Adrian, Abbs Stephen, Vasudevan Pradeep, McNinch Annie, Alexander Philip, Snead Martin P

Abstract excerpt

BACKGROUND: Type 2 Stickler syndrome is usually a dominant disorder resulting from pathogenic variants in COL11A1 encoding the alpha 1 chain of type XI collagen. Typical molecular changes result in either substitution of an obligate glycine within the Gly-Xaa-Yaa amino acid sequence repeat region of the molecule, mRNA missplicing or deletions/duplications that typically leaves the message in-frame. Clinical...

Topics

Adolescent
Arthritis
Collagen Type XI
Connective Tissue Diseases
Female
Gene Deletion
Genes, Dominant
Hearing Loss, Sensorineural
Humans
Phenotype
RNA Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32578940
DOI: 10.1002/mgg3.1354
PMCID: PMC7507023

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