Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

ABSTRACT:

Objective

While there have been several reports of patients with dominantly acting COL12A1 variants, few cases of the more severe recessive Collagen XII-related disorders have previously been documented.

Methods

We present detailed clinical, immunocytochemical, and imaging data on eight additional patients from seven families with biallelic pathogenic variants in COL12A1.

Results

All patients presented with a consistent constellation of congenital onset clinical features: hypotonia, dysmorphic features, most notably gingival hypertrophy, prominent distal joint hyperlaxity, with co-occurring contractures of large joints, and variable muscle involvement, evident both clinically and on muscle imaging. Five patients presented with a severe congenital phenotype manifesting

SUBMITTER: McCarty RM 

PROVIDER: S-EPMC11920742 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature