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Article

NTNG1 mutations are a rare cause of Rett syndrome.

American journal of medical genetics. Part A - 1 Apr 2006

Archer Hayley L, Evans Julie C, Millar David S, Thompson Peter W, Kerr Alison M, Leonard Helen, Christodoulou John, Ravine David, Lazarou Lazarus, Grove Lucy, Verity Christopher, Whatley Sharon D, Pilz Daniela T, Sampson Julian R, Clarke Angus J

Abstract excerpt

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). The netrin G1 protein (NTNG1) has an important role in the developing central nervous system, particularly in axonal guidance, signalling and NMDA receptor function and was a good candidate gene for RTT. We recruited 115 patients with RTT (females: 25 classic and 84...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16502428
DOI: 10.1002/ajmg.a.31133
PMCID: PMC2577736

Genes

NTNG1
CDKL5
MECP2

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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