Gene Locus : human-NLGN3
Mode of mutation : Natural mutant
Disease : Neuroligin 3 Autism AUTSX1 Asperger syndrome ASPGX1
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 413
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
c.1789C>T, p.Arg597Trp Autism Spectrum Disorder (ASD) present in three affected cousins
| Title : Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment - Quartier_2019_Hum.Mutat_40_2021 |
| Author(s) : Quartier A , Courraud J , Thi Ha T , McGillivray G , Isidor B , Rose K , Drouot N , Savidan MA , Feger C , Jagline H , Chelly J , Shaw M , Laumonnier F , Gecz J , Mandel JL , Piton A |
| Ref : Hum Mutat , 40 :2021 , 2019 |
| Abstract : |
| PubMedSearch : Quartier_2019_Hum.Mutat_40_2021 |
| PubMedID: 31184401 |
| Gene_locus related to this paper: human-NLGN3 |
| Title : Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing - Redin_2014_J.Med.Genet_51_724 |
| Author(s) : Redin C , Gerard B , Lauer J , Herenger Y , Muller J , Quartier A , Masurel-Paulet A , Willems M , Lesca G , El-Chehadeh S , Le Gras S , Vicaire S , Philipps M , Dumas M , Geoffroy V , Feger C , Haumesser N , Alembik Y , Barth M , Bonneau D , Colin E , Dollfus H , Doray B , Delrue MA , Drouin-Garraud V , Flori E , Fradin M , Francannet C , Goldenberg A , Lumbroso S , Mathieu-Dramard M , Martin-Coignard D , Lacombe D , Morin G , Polge A , Sukno S , Thauvin-Robinet C , Thevenon J , Doco-Fenzy M , Genevieve D , Sarda P , Edery P , Isidor B , Jost B , Olivier-Faivre L , Mandel JL , Piton A |
| Ref : Journal of Medical Genetics , 51 :724 , 2014 |
| Abstract : |
| PubMedSearch : Redin_2014_J.Med.Genet_51_724 |
| PubMedID: 25167861 |
| Gene_locus related to this paper: human-NLGN3 |