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Article

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

American journal of medical genetics. Part A - 1 Jul 2026

Uctepe Eyyup, Esen Fatma Nisa, Mancilar Hanifenur, Tümer Sait, Celebi Fahri, Yesilyurt Ahmet

Abstract excerpt

Interstitial deletions involving 3q27.1 define a distinct microdeletion syndrome characterized by prenatal-onset growth restriction, postnatal microcephaly, hypotonia, intellectual disability, and distinctive craniofacial features. While AP2M1 haploinsufficiency has been proposed as the primary driver of this phenotype, the full spectrum of dosage-sensitive genes within the locus remains unclear. Here, we report...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41804662
DOI: 10.1002/ajmg.a.70097

Genes

PSMD2
AP2M1
DVL3
EIF4G1
POLR2H

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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