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

• Published in: American journal of medical genetics. Part B, Neuropsychiatric genetics Vol. 131B; no. 1; pp. 43 - 47
• Main Authors: Marui, Tetsuya, Hashimoto, Ohiko, Nanba, Eiji, Kato, Chieko, Tochigi, Mamoru, Umekage, Tadashi, Ishijima, Michiko, Kohda, Kazuhisa, Kato, Nobumasa, Sasaki, Tsukasa
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.11.2004
• Subjects: Adolescent; Adult; Alleles; Alu; Alu Elements - genetics; autism; Autistic Disorder - genetics; Child; Dinucleotide Repeats - genetics; Female; Gene Frequency; genetic association study; Humans; Japan; Male; Microsatellite Repeats - genetics; neurofibromatosis-1; Neurofibromin 1 - genetics; Polymorphism, Genetic; tetranucleotide repeat; Japan

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 t...