Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

doi:10.1016/j.gim.2024.101218

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Article

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2024

Huang Yue, Jay Kristy L, Yen-Wen Huang Alden, Wan Jijun, Jangam Sharayu V, Chorin Odelia, Rothschild Annick, Barel Ortal, Mariani Milena, Iascone Maria, Xue Han, Huang Jing, Mignot Cyril, Keren Boris, Saillour Virginie, Mah-Som Annelise Y, Sacharow Stephanie, Rajabi Farrah, Costin Carrie, Yamamoto Shinya, Kanca Oguz, Bellen Hugo J, Rosenfeld Jill A, Palmer Christina G S, Nelson Stanley F, Wangler Michael F, Martinez-Agosto Julian A

Abstract excerpt

PURPOSE: Epigenetic dysregulation has been associated with many inherited disorders. RBBP5 (HGNC:9888) encodes a core member of the protein complex that methylates histone 3 lysine-4 and has not been implicated in human disease. METHODS: We identify 5 unrelated individuals with de novo heterozygous variants in RBBP5. Three nonsense/frameshift and 2 missense variants were identified in probands with...

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Identifiers

PMID: 39036895
DOI: 10.1016/j.gim.2024.101218
PMCID: PMC11648989

Genes

RBBP5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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