Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.
Nitika Langeh, Reddipalli Sharath, Mohammed Tahir Ansari et al.
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Case in brief
Three individuals from two unrelated Indian families presented with Thrombocytopenia-Absent Radius (TAR) syndrome, characterized by absent radius in the forearms and low platelet counts. Genetic analysis revealed a non-coding variant, c.*6C>T, in the RBM8A gene, which was associated with decreased transcript stability and acted as a hypomorphic allele in conjunction with a null allele from a 1q21.1 deletion. This finding was confirmed through an mRNA stability assay.
What made this case unusual
The case highlights the role of a non-coding variant in the pathogenesis of TAR syndrome, which is typically associated with pathogenic variants in coding regions of the RBM8A gene.
Diagnostic / clinical pearl
Clinicians should consider non-coding variants in the RBM8A gene when evaluating patients for TAR syndrome, as they may contribute to disease pathology.
Why it matters
This case underscores the importance of exploring non-coding regions in genetic disorders, expanding the understanding of genetic contributions to syndromes like TAR.