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Article

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.

American journal of medical genetics. Part A - 1 Nov 2025

Gear Russell, Kalitsis Paul, Glass Melissa, Isidor Bertrand, Vincent-Delorme Catherine, Petit Florence, Verhagen Judith M A, Jorge Alexander, Krepischi Ana Cristina Victorino, Osei-Owusu Ikeoluwa, Martinez Eva, O'Donnell-Luria Anne, de Leeuw Nicole, Ruggiero Sarah, Helbig Ingo, David Francis, Brown Natasha J

Abstract excerpt

Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor-related protein complex 2, mu-1 subunit) gene and summarize data from 12 previously reported cases from the literature. The overall cohort of 19 individuals...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40631915
DOI: 10.1002/ajmg.a.64153
PMCID: PMC12286883

Genes

AP2M1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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