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Article

A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2025

Goh Shuxiang, Thiyagarajan Lavvina, Dudding-Byth Tracy, Pinese Mark, Kirk Edwin P

Abstract excerpt

PURPOSE: Many copy-number variants (CNVs) are reported to cause a variety of neurodevelopmental disabilities including intellectual disability, developmental delay, autism, and other phenotypes with incomplete penetrance. Therefore, not all individuals with a pathogenic CNV are affected. Penetrance estimates vary between studies. A systematic review was conducted to clarify CNV penetrance for 83 recurrent CNVs....

Read the complete abstract on PubMed

Topics

Humans
Developmental Disabilities
DNA Copy Number Variations
Genetic Predisposition to Disease
Intellectual Disability

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Neurodevelopmental Disorders

Penetrance

Phenotype

Source

Identifiers

PMID: 39092588
DOI: 10.1016/j.gim.2024.101227

Genes

FBXO22
NF1
NIPA1
NPHP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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