Variable penetrance of the 15q11.2 BP1–BP2 microduplication in a family with cognitive and language impairment

Abstract

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.

Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants

“…Indeed, other modulatory pathways were not excluded and some of these may be similar to 15q11.2 and 16p11.2 duplications, for example, dosage‐sensitive pathways, the presence of a protective allele, sequence changes, and the impact of duplicated noncoding genes (Benítez‐Burraco et al, 2017; Jing et al, 2014; Lee et al, 2015; Ulfarsson et al, 2017; Zwaag et al, 2009). We emphasize the importance of future analyses, particularly messenger ribonucleic acid/protein expression studies and more detailed methods for revealing the start and end of duplications of 9p24.3 and other loci.…”