Identification and Functional Characterization of a Novel SEMA3A Exon Deletion Variant in Kallmann Syndrome

SEMA3A (intragenic deletion — novel structural variant)

Novel exonic CNV + in vitro functional characterization (protein impact, GnRH signalling)

Identification by sequencing and functional characterization of a novel intragenic SEMA3A deletion in a Kallmann patient. The combined approach of structural variant detection and functional validation (impact on SEMA3A protein and GnRH neuron signalling) enables pathogenic classification of the variant.

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

Exemplary workflow combining CNV detection (missed by SNV analysis) + functional validation. A reminder that in unresolved Kallmann cases after classical panel testing, CNV analysis plus functional interpretation of CNVs remains essential.

known gene +0; novel CNV +2; functional +2; 1 case +0; interpretation impact +1; CNV+functional methodology +1; journal +1