Association of polymorphisms in the haplotype block spanning the alternatively spliced exons of the NTNG1 gene at 1p13.3 with schizophrenia in Japanese populations
NEUROSCIENCE LETTERS
Authors: Ohtsuki, T.; Horiuchi, Y.; Koga, M.; Ishiguro, H.; Inada, T.; Iwata, N.; Ozaki, N.; Ujike, H.; Watanabe, Y.; Someya, T.; Arinami, T.
Abstract
Chromosome 1p13 is linked with schizophrenia in Japanese families, and one of the candidate genes in this region is the netrinG1 (NTNG1) gene at 1p13.3. Associations of 56 tag single-nucleotide polymorphisms (SNPs) with schizophrenia were explored by transmission disequilibrium analysis in 160 Japanese trios and by case-control analysis in 2174 Japanese cases and 2054 Japanese controls. An association between SNP rs628117 and schizophrenia was identified by case-control comparison (nominal allelic p = 0.0009; corrected p = 0.006). The associated polymorphism is located in intron 9 and in the haplotype block encompassing the alternatively spliced exons of the gene. Allelic association of a different SNP in the same haplotype block in Japanese families was previously reported. These findings support that the NTNG1 gene is associated with schizophrenia in the Japanese. (c) 2008 Elsevier Ireland Ltd. All rights reserved.
NTNG1 mutations are a rare cause of Rett syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Authors: Archer, HL; Evans, JC; Millar, DS; Thompson, PW; Kerr, AM; Leonard, H; Christodoulou, J; Ravine, D; Lazarou, L; Grove, L; Verity, C; Whatley, SD; Pitz, DT; Sampson, JR; Clarke, AJ
Abstract
A translatin that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with an early seizure variant of Rett syndrome (RTT). The Netrin G1 protein (NTNG1) has an important in the developing central nervous system, particularly in axonal guidance, signalling and NMDA receptor function and awas 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 MECP2 gene. For those 52 patienta with epileptic seizure onset in the first 6 months of life. CDKL5 mutations were also excluded. We aimed to determine whether mutations in NTNG1 accounted for a sifgnificant subset of patients with RTT, particularly those with the early onset seizure variant and other atypical presentations. We sequenced the nine coding exons of NTNG1 and identified four sequence variants, none of which were likely to be pathogenic. Mutations in the NTNG1 function demands further investigation in relation to the central nervous system pathophysiology of the disorder. (c) 2006 Wiley-Liss, Inc.