Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome.

ABSTRACT:

Background

Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One potential path to advance precision medicine for neurogenetic disorders is modeling penetrance in probands relative to observed phenotypes in their non-carrier relatives. Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome-a sex chromosome aneuploidy that is known to increase risk for psychopathology.

Methods

We analyzed a range of cognitive and behavioral domains in XYY probands and their non-carrier family members (n = 58 families), including general cognitive ability (FSIQ), as well as continuou

SUBMITTER: Wilson KE 

PROVIDER: S-EPMC7986517 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature