| Title : 790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism - Belligni_2012_Eur.J.Med.Genet_55_222 |
| Author(s) : Belligni EF , Di Gregorio E , Biamino E , Calcia A , Molinatto C , Talarico F , Ferrero GB , Brusco A , Silengo MC |
| Ref : Eur Journal of Medical Genetics , 55 :222 , 2012 |
|
Abstract :
We report a patient with a moderate mental retardation, afebrile seizure, mild dysmorphic features and type 2 diabetes mellitus with mild obesity and metabolic syndrome. Array-CGH analysis revealed a de novo 790-830 kb duplication on chromosome 17p13.1, not reported so far. Among the approximately 50 genes involved in the rearrangement, neuroligin 2 (NLGN2) and ephrin B3 (EFNB3) are candidates for the mental retardation phenotype. NLGN2 may therefore be a novel candidate gene for mental retardation or autistic spectrum disorder, joining other members of the neurexin/neuroligin network. Moreover, GLUT4, a member of the solute carrier family 2, may play a role in the patient's type 2 diabetes. |
| PubMedSearch : Belligni_2012_Eur.J.Med.Genet_55_222 |
| PubMedID: 22365944 |
Belligni EF, Di Gregorio E, Biamino E, Calcia A, Molinatto C, Talarico F, Ferrero GB, Brusco A, Silengo MC (2012)
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism
Eur Journal of Medical Genetics
55 :222
Belligni EF, Di Gregorio E, Biamino E, Calcia A, Molinatto C, Talarico F, Ferrero GB, Brusco A, Silengo MC (2012)
Eur Journal of Medical Genetics
55 :222