Benítez-Burraco Antonio, Barcos-Martínez Montserrat, Espejo-Portero Isabel, Jiménez-Romero Salud
Department of Philology, University of Huelva, Huelva, Spain.
Maimónides Institute of Biomedical Research, Córdoba, Spain.
Mol Syndromol. 2017 May;8(3):139-147. doi: 10.1159/000468192. Epub 2017 Apr 14.
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.
在患有认知、语言和行为障碍的人群中，发现15q11.2 BP1 - BP2区域存在重复或缺失。我们报告了一个家族（一名父亲和3名男性双胞胎兄弟姐妹），该家族存在15q11.2 BP1 - BP2区域的重复以及可变表型：父亲和异卵双胞胎是正常携带者，而单卵双胞胎表现出严重的语言和认知延迟以及行为障碍。位于重复区域内的基因参与大脑发育和功能，其中一些与语言处理有关。先证者的表型可能源于这些对认知发育重要的基因中某些基因表达水平的变化。
