What question did this study set out to answer?

To describe a case of a homozygous COL1A1 variant causing an arthrochalasia-like Ehlers–Danlos syndrome phenotype.

June 13, 2026GenesOpen Access

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

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Case report reveals a homozygous COL1A1 variant causing arthrochalasia-like EDS in a 10-month-old boy, highlighting diagnostic implications.

To describe a case of a homozygous COL1A1 variant causing an arthrochalasia-like Ehlers–Danlos syndrome phenotype.
Clinical evaluation and molecular genetic assessment of a 10-month-old boy.
Whole-exome sequencing followed by confirmatory Sanger sequencing of the proband and parents.
Characterization of clinical features and family background.
Homozygous variant NM_000088.4:c.2050G>A, p.(Glu684Lys) identified in the patient.
Patient exhibited severe hypotonia, hip dislocation, joint hypermobility, and skin hyperextensibility.
Parents confirmed as heterozygous carriers; this is the first case reported in the Russian population.

Маркова et al. (2026) studied this question.

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Case report reveals a homozygous COL1A1 variant causing arthrochalasia-like EDS in a 10-month-old boy, highlighting diagnostic implications.