Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population

Tetsuya Marui, Ohiko Hashimoto, Eiji Nanba, Chieko Kato, Mamoru Tochigi, Tadashi Umekage, Michiko Ishijima, Kazuhisa Kohda, Nobumasa Kato, Tsukasa Sasaki

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56 Citations (Scopus)


Autistic patients have a 100 to 190-fold increased risk of neurofibromatosis compared to the general population. This suggests that the two diseases may share a common etiological background. Recently, a new allele (or the six-repeat allele) of the (AAAT)n repeat polymorphism in an Alu sequence in the neurofibromatosis-1 (NF1) gene was observed exclusively in severe autistic patients, not in controls, in Caucasians of French ancestry. This suggests a role of the NF1 gene in the development of autism. We investigated three microsatellite polymorphisms within the intron-27b and intron-38 of the NF1 region, including the (AAAT)n and two (CA)n repeat polymorphisms, in Japanese subjects with autism (n = 74) and controls (n = 122). The six-repeat allele of the (AAAT)n polymorphism was not found either in patients or controls, possibly indicating an ethnic difference in the polymorphism. However, significant differences were observed in the allele distributions of the (AAAT)n and a (CA)n, which were located at intron-27b, between patients and controls, although an association was not significant between autism and another polymorphism at intron-38. This may suggest an involvement of the NF1 locus in susceptibility to autism, although further investigations are recommended.

Original languageEnglish
Pages (from-to)43-47
Number of pages5
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume131 B
Issue number1
Publication statusPublished - 2004 Nov 15
Externally publishedYes


  • Alu
  • Autism
  • Genetic association study
  • Neurofibromatosis-1
  • Tetranucleotide repeat

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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