Somatic Mosaicism Modulating Clinical Severity in COL2A1-Related Skeletal Dysplasia: A Case of Profound Skeletal Asymmetry.

Calcif Tissue IntSep 18, 2026 (epub)
Case ReportMedical GeneticsOpen access

Rukiye Sena Turk Yilmaz, Lisa Cruz, Cemre Robinson et al.

✦ AI-curated · Sources linked

Case in brief

A patient presented with significant skeletal asymmetry attributed to somatic mosaicism for a pathogenic COL2A1 variant (c.G1537A; p.G513S). This variant, typically linked to severe phenotypes, was found in a mosaic form with an alternative allele ratio of 36:17, resulting in a nonlethal presentation. The case underscores the complexity of genotype-phenotype correlations in COL2A1-related disorders.

Diagnostic / clinical pearl

Clinicians should consider somatic mosaicism as a potential factor influencing the clinical severity and presentation of COL2A1-related skeletal dysplasias.

Why it matters

This case highlights the importance of recognizing mosaicism in genetic disorders, which can lead to variable clinical outcomes and may not align with typical genotype-phenotype expectations.

Source

PubMed · PMID 42758201Free full text on PubMed Central

Published in Calcif Tissue Int. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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