Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.

ABSTRACT:

Background

Rare denovo variants represent a significant cause of neurodevelopmental delay and intellectual disability (ID).

Methods

Exome sequencing was performed on 4351 patients with global developmental delay, seizures, microcephaly, macrocephaly, motor delay, delayed speech and language development, or ID according to Human Phenotype Ontology (HPO) terms. All patients had previously undergone whole exome sequencing as part of diagnostic genetic testing with a focus on variants in genes implicated in neurodevelopmental disorders up to January 2017. This resulted in a genetic diagnosis in 1336 of the patients. In this study, we specifically searched for variants in 14 recently implicated novel neurodevelopmental disorder (NDD) genes.

Results

We identified 65 rare, p

SUBMITTER: Trinh J 

PROVIDER: S-EPMC6593513 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature