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The netrin G1 protein (<jats:italic>NTNG1<\/jats:italic>) 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 atypical; 6 males) but no mutation in the <jats:italic>MECP2<\/jats:italic> gene. For those 52 patients with epileptic seizure onset in the first 6 months of life, <jats:italic>CDKL5<\/jats:italic> mutations were also excluded. We aimed to determine whether mutations in <jats:italic>NTNG1<\/jats:italic> accounted for a significant subset of patients with RTT, particularly those with the early onset seizure variant and other atypical presentations. We sequenced the nine coding exons of <jats:italic>NTNG1<\/jats:italic> and identified four sequence variants, none of which were likely to be pathogenic. Mutations in the <jats:italic>NTNG1<\/jats:italic> gene appear to be a rare cause of RTT but NTNG1 function demands further investigation in relation to the central nervous system pathophysiology of the disorder. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31133","type":"journal-article","created":{"date-parts":[[2006,2,25]],"date-time":"2006-02-25T00:47:09Z","timestamp":1140828429000},"page":"691-694","source":"Crossref","is-referenced-by-count":43,"title":["<i>NTNG1<\/i> mutations are a rare cause of Rett syndrome"],"prefix":"10.1002","volume":"140A","author":[{"given":"Hayley L.","family":"Archer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie C.","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David S.","family":"Millar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter 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