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

被引：8

作者：

Benitez-Burraco, Antonio ^{[1
]}

Barcos-Martinez, Montserrat ^{[2
,3
]}

Espejo-Portero, Isabel ^{[2
,3
]}

Jimenez-Romero, Salud ^{[2
,4
]}

机构：

[1] Univ Huelva, Dept Philol, Campus El Carmen,Avda Fuerzas Armadas S-N, ES-21071 Huelva, Spain

[2] Univ Hosp Reina Sofia, Maimonides Inst Biomed Res, Cordoba, Spain

[3] Univ Hosp Reina Sofia, Lab Mol Genet, Cordoba, Spain

[4] Univ Cordoba, Dept Psychol, Cordoba, Spain

来源：

MOLECULAR SYNDROMOLOGY | 2017年 / 8卷 / 03期

关键词：

Copy number variations; Cognitive delay; Language impairment; Microduplication; 15q11.2; BP1-BP2; Variable penetrance; DELETION; DISORDERS; AUTISM; REGION; GENES;

D O I：

10.1159/000468192

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2017 S. Karger AG, Basel

引用

页码：139 / 147

页数：9

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