Recurrent IRF2BPL c.2152del Variant in NEDAMSS: A Case Report and Comparative Analysis

IRF2BPL (c.2152del, p.Cys718Alafs*49, de novo, heterozygous)

Recurrent de novo frameshift variant — comparative phenotypic analysis (3rd case)

Description of a 3rd patient carrying the recurrent IRF2BPL c.2152del variant, with early-onset NEDAMSS and associated West syndrome. Phenotypic comparison with 2 prior cases: profound hypotonia, severe NDD, epileptic encephalopathy, corpus callosum thinning and hippocampal malrotation. All 3 cases converge on a severe form specifically linked to this variant.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Useful for interpretation: strengthens the pathogenicity of the recurrent c.2152del variant and suggests a variant-specific correlation with prognosis (severe NEDAMSS + West). Worth mentioning in MDT meetings when this specific variant is identified.

known gene +0; recurrent de novo +2; 3 cases with same variant +1; clinical impact +1; standard journal +1; G/P correlation +1