RT Journal Article
SR Electronic
T1 Variable penetrance of the 15q11.2 BP1–BP2 microduplication in a family with cognitive and language impairment
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 095919
DO 10.1101/095919
A1 Antonio Benítez-Burraco
A1 Montserrat Barcos-Martínez
A1 Isabel Espejo-Portero
A1 Ma Salud Jiménez-Romero
YR 2016
UL http://biorxiv.org/content/early/2016/12/22/095919.abstract
AB The 15q11.2 BP1–BP2 region is found duplicated or deleted in people with cognitive, language, and behavioral impairment. Case presentation. We report on a family (the father and three male twin siblings) who presents with a duplication of the 15q11.2 BP1-BP2 region and a variable phenotype: whereas the father and the fraternal twin are normal carriers, the monozygotic twins exhibit severe language and cognitive delay and behavioral disturbances. The genes located within the duplicated region are involved in brain development and function, and some of them are related to language processing. Conclusions. The probands’ phenotype may result from changes in the expression level of some of these genes important for cognitive development.ADDAttention Deficit DisorderADHDAttention Deficit-Hyperactivity DisorderCAchronological age.CGHcomparative genomic hybridizationCNVscopy number variantsDAdevelopmental ageFISHfluorescence in situ hybridizationICDInternational Statistical Classification of Diseases and Related Health ProblemsITPAIllinois Test of Psycholinguistic AbilitiesM-CHATModified Checklist for Autism in ToddlersMLPAMultiplex Ligation-dependent Probe AmplificationMRImagnetic resonance imagingOCDObsessive-Compulsive DisorderODDOppositional Defiant disorderPCRpolymerase chain reactionPECSPicture Exchange Communication SystemWAISWechsler Adult Intelligence ScaleWISCWechsler Intelligence Scale for Children