RT Journal Article
T1 Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment.
A1 Benítez-Burraco, Antonio
A1 Barcos-Martínez, Montserrat
A1 Espejo-Portero, Isabel
A1 Jiménez-Romero, Salud
K1 Cognitive delay
K1 Copy number variations
K1 Language impairment
K1 Microduplication 15q11.2 BP1–BP2
K1 Variable penetrance
AB The 15q11.2 BP1-BP2 region is found duplicated or deleted in people with cognitive, language, and behavioral impairment. We report on a family (a father and 3 male twin siblings) that presents with a duplication of the 15q11.2 BP1-BP2 region and a variable phenotype: the father and the fraternal twin are normal carriers, whereas the monozygotic twins exhibit severe language and cognitive delay as well as 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. The probands' phenotype may result from changes in the expression level of some of these genes important for cognitive development.
SN 1661-8769
YR 2017
FD 2017-04-14
LK https://hdl.handle.net/10668/25047
UL https://hdl.handle.net/10668/25047
LA en
DS RISalud
RD Apr 5, 2025