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Article

A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.

Genes - 10 Jun 2026

Markova Tatiana, Melnik Evgeniya, Kurelev Maksim, Cherevatova Tatiana, Nikolaeva Alexandra, Gorodilova Daria, Demina Nina, Dadali Elena

Abstract excerpt

BACKGROUND/OBJECTIVES: Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a rare connective tissue disorder characterized by severe joint hypermobility, congenital hip dislocation, skin hyperextensibility, and muscle hypotonia. It is typically caused by heterozygous splice-site variants in COL1A1 or COL1A2, leading to exon 6 skipping. Autosomal recessive forms are extremely rare and have been reported predominantly...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42353838
DOI: 10.3390/genes17060679
PMCID: PMC13300355

Genes

COL1A1
COL1A2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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