Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.

ABSTRACT:

Importance

PTEN is among the most common autism spectrum disorder (ASD)-predisposition genes. Germline PTEN mutation carriers can develop malignant neoplasms and/or neurodevelopmental disorders such as ASD and developmental delay. Why a single gene contributes to disparate clinical outcomes, even in patients with identical PTEN mutations, remains unclear.

Objective

To investigate the association of copy number variations (CNVs), altered numbers of copies of DNA sequences within the genome, with specific phenotypes in patients with germline PTEN mutations.

Design, setting, and participants

This prospective cohort study examined genome-wide microarrays performed on blood-derived DNA to detect germline CNVs from September 1, 2005, through January 3, 2018. Multicenter acc

SUBMITTER: Yehia L 

PROVIDER: S-EPMC7042875 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature