The importance of intrafamilial cognitive phenotyping by the case of 22q11.2 deletion, 15q11.2 deletion, and families with inherited copy number variants of unknown significance.

ABSTRACT:

Background

Rare copy number variants (CNVs) are known to be important contributors to the genetic cause of developmental differences (DD). Parental cognitive phenotyping could assist with interpreting inherited variants of uncertain significance (VUS), and could help to assess phenotypic variability and improve genetic counseling. However, no methodological framework exists for the intergenerational correlation of cognitive abilities. We introduce an approach to assess intrafamilial concordance of cognitive abilities and apply it to three trio cohorts: adults with de novo 22q11.2 microdeletion (n = 50) acting as a high penetrance control for the method, probands with inherited 15q11.2 BP1-BP2 deletions (n = 10) which is associated with a low penetrance of DD, and probands with DD a

SUBMITTER: Pelgrims E 

PROVIDER: S-EPMC12715955 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature