RGD Reference Report - Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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

Authors: Marui, Tetsuya  Hashimoto, Ohiko  Nanba, Eiji  Kato, Chieko  Tochigi, Mamoru  Umekage, Tadashi  Ishijima, Michiko  Kohda, Kazuhisa  Kato, Nobumasa  Sasaki, Tsukasa 
Citation: Marui T, etal., Am J Med Genet B Neuropsychiatr Genet. 2004 Nov 15;131B(1):43-7.
RGD ID: 12743657
Pubmed: PMID:15389774   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.b.20119   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autistic disorder susceptibilityIAGP 12743657DNA:polymorphism:intron:GXAlu and IVS27AC28.4 (human)RGD 
autistic disorder susceptibilityISONF1 (Homo sapiens)12743657; 12743657DNA:polymorphism:intron:GXAlu and IVS27AC28.4 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nf1  (neurofibromin 1)

Genes (Mus musculus)
Nf1  (neurofibromin 1)

Genes (Homo sapiens)
NF1  (neurofibromin 1)


Additional Information