title: CTNND2 deletion and intellectual disability.
abstract: Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated intellectual disability to more complex syndromes. Molecular karyotyping can explain 14%-18% of cases due to the presence of large pathogenic CNVs. Moreover, small CNVs involving single genes might result in a monogenic disease. In this article we report two cases of intragenic CTNND2 deletion, detected by molecular karyotyping, in patients with isolated intellectual disability.
authors.affiliation: Department of Medical Sciences, University of Trieste, Italy. Electronic address: chiarabelcaro@gmail.com.
authors.forename: Chiara
authors.initials: C
authors.lastname: Belcaro
authors.affiliation: Department of Medical Sciences, University of Trieste, Italy.
authors.forename: Savina
authors.initials: S
authors.lastname: Dipresa
authors.affiliation: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Morini
authors.affiliation: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
authors.forename: Vanna
authors.initials: V
authors.lastname: Pecile
authors.affiliation: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Skabar
authors.affiliation: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Fabretto
mesh_terms: D051177:Catenins / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D000095002:Delta Catenin
chemical_list: D051177:Catenins; D000095002:Delta Catenin; C000722348:CTNND2 protein, human
keywords: CNV; CTNND2; Deletion; Disability; Intellectual