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Article

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

Human genetics - 1 Oct 2005

Pramparo Tiziano, Grosso Salvatore, Messa Jole, Zatterale Adriana, Bonaglia Maria Clara, Chessa Luciana, Balestri Paolo, Rocchi Mariano, Zuffardi Orsetta, Giorda Roberto

Abstract excerpt

The human AF9/MLLT3 gene is a common fusion partner for the MLL gene in translocations t(9;11)(p22;q23) associated with acute myeloid leukemia and acute lymphocytic leukemia. The exact function of the gene is still unknown, although a mouse knock-out model points to a role as a controller of embryo patterning. We report the case of a constitutional translocation t(4;9)(q35;p22) disrupting the AF9/MLLT3 gene in a...

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Identifiers

PMID: 16001262
DOI: 10.1007/s00439-005-0004-1

Genes

MLLT3

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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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Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.PMID 16001262Read ↗

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The mll-AF9 gene fusion in mice controls myeloproliferation and specifies acute myeloid leukaemogenesis.Semantic proximity Read ↗

Fetal context conveys heritable protection against MLL-rearranged leukemia that depends on MLL3Semantic proximity Read ↗

Af9/Mllt3 interferes with Tbr1 expression through epigenetic modification of histone H3K79 during development of the cerebral cortex.Semantic proximity Read ↗

Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia.Semantic proximity Read ↗

A novel gene, AF1q, fused to MLL in t(1;11) (q21;q23), is specifically expressed in leukemic and immature hematopoietic cellsSemantic proximity Read ↗

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