Literature DB >> 28588435

Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment.

Antonio Benítez-Burraco1, Montserrat Barcos-Martínez2,3, Isabel Espejo-Portero2,3, Salud Jiménez-Romero2,4.   

Abstract

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.

Entities:  

Keywords:  Cognitive delay; Copy number variations; Language impairment; Microduplication 15q11.2 BP1–BP2; Variable penetrance

Year:  2017        PMID： 28588435      PMCID： PMC5448451          DOI： 10.1159/000468192

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  19 in total

1.  Some current dimensions of applied behavior analysis.

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4.  15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features.

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5.  Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome.

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Journal:  Am J Med Genet A       Date:  2014-04-08       Impact factor: 2.802

6.  Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.

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Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2016-08-26       Impact factor: 3.568

7.  Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

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Authors:  Devin M Cox; Merlin G Butler
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