Titre du document / Document title

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

Auteur(s) / Author(s)

MARUI Tetsuya ^{(1 2)} ; HASHIMOTO Ohiko ^{(1 3)} ; NANBA Eiji ⁽⁴⁾ ; KATO Chieko ⁽¹⁾ ; TOCHIGI Mamoru ⁽¹⁾ ; UMEKAGE Tadashi ⁽¹⁾ ; ISHIJIMA Michiko ⁽¹⁾ ; KOHDA Kazuhisa ^{(1 5)} ; KATO Nobumasa ⁽¹⁾ ; SASAKI Tsukasa ^{(1 6)} ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Department of Psychiatry, Graduate School of Medicine, University of Tokyo, Tokyo, JAPON
⁽²⁾ Tsurugaoka Hospital, Tokyo, JAPON
⁽³⁾ Department of Psychiatry, Graduate School of Medicine, University of Nagoya, Aichi, JAPON
⁽⁴⁾ Gene Research Center, Tottori University, Yonago, JAPON
⁽⁵⁾ Outpatient Clinic for Developmental Disorders, Department of Psychiatry, Tokyo University Hospital, Tokyo, JAPON
⁽⁶⁾ Department of Psychiatry, Health Service Center, University of Tokyo, Tokyo, JAPON

Résumé / Abstract

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.

Revue / Journal Title

American journal of medical genetics   ISSN 0148-7299   CODEN AJMGDA 

Source / Source

2004, vol. 131B, n^o1, pp. 43-47 [5 page(s) (article)] (19 ref.)

Langue / Language

Anglais

Editeur / Publisher

Wiley-Liss, New York, NY, ETATS-UNIS  (1977-2002) (Revue)

Mots-clés anglais / English Keywords

Developmental disorder ; Benign neoplasm ; Nervous system diseases ; Phacomatosis ; Skin disease ; Genetic disease ; Human ; Tetranucleotide ; Genetic determinism ; Genetics ; Population ; Japanese ; Autism ; Neurological disorder ; Locus ; Neurofibromatosis Recklinghausen ;

Mots-clés français / French Keywords

Trouble développement ; Tumeur bénigne ; Système nerveux pathologie ; Phacomatose ; Peau pathologie ; Maladie héréditaire ; Linkage ; Association génétique ; Homme ; Tétranucléotide ; Déterminisme génétique ; Génétique ; Population ; Japonais ; Autisme ; Trouble neurologique ; Locus ; Neurofibromatose Recklinghausen ;

Mots-clés espagnols / Spanish Keywords

Trastorno desarrollo ; Tumor benigno ; Sistema nervioso patología ; Facomatosis ; Piel patología ; Enfermedad hereditaria ; Hombre ; Tetranucleótido ; Determinismo genético ; Genética ; Población ; Japonés ; Autismo ; Trastorno neurológico ; Locus ; Neurofibromatosis Recklinghausen ;

Mots-clés d'auteur / Author Keywords

autism ; genetic association study ; neurofibromatosis-1 ; Alu ; tetranucleotide repeat ;

Localisation / Location

INIST-CNRS, Cote INIST : 17405, 35400012261815.0080