De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities

PSMD2 haploinsufficiency (26S proteasome subunit), refinement of 3q27.1 critical region

Characterization of a de novo 3q27.1 microdeletion refines the critical region and implicates PSMD2 haploinsufficiency in growth and neurodevelopmental abnormalities. PSMD2 encodes a regulatory subunit of the 26S proteasome; its haploinsufficiency is consistent with the observed NDD, growth retardation, and dysmorphic features. This study clarifies the boundaries of the pathogenic region and improves CNV interpretation at this locus in routine cytogenomic diagnosis.

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

Refining the critical region of a known microdeletion is a practical contribution for cytogenomic laboratories: it enables better qualification of partial 3q27.1 deletions encountered in CNV diagnosis and points to PSMD2 as the primary candidate gene.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 7/10