Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion

Bi-allelic COLEC10 variants and MASP1 exon-level deletion — lectin complement pathway deficiency

Novel COLEC10 variants and a MASP1 exon-level deletion are reported, expanding the mutational spectrum of 3MC syndrome. 3MC syndrome is a rare autosomal recessive condition caused by deficiency in lectin complement pathway components: MASP1, MASP3, COLEC11, and COLEC10. The MASP1 exon-level deletion underscores the importance of genome-wide copy number analysis or whole-genome sequencing for this gene.

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3MC syndrome remains one of the lesser-known rare genetic syndromes outside specialist centers. New publications on this entity are rare and valuable for refining the differential diagnosis of syndromic intellectual disability with craniofacial features. The MASP1 exon-level deletion is a reminder that WGS or array-CGH analysis is essential to avoid missing structural variants in this condition.

Clinical impact : 2/3 · Evidence strength : 2/3 · Novelty : 2/2 · Sample size : 0/1 · Journal quality : 0/1 → Total : 6/10