Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.

ABSTRACT:

Purpose

Pathogenic variants in SCN2A cause a wide range of neurodevelopmental phenotypes. Reports of genotype-phenotype correlations are often anecdotal, and the available phenotypic data have not been systematically analyzed.

Methods

We extracted phenotypic information from primary descriptions of SCN2A-related disorders in the literature between 2001 and 2019, which we coded in Human Phenotype Ontology (HPO) terms. With higher-level phenotype terms inferred by the HPO structure, we assessed the frequencies of clinical features and investigated the association of these features with variant classes and locations within the Na_V1.2 protein.

Results

We identified 413 unrelated individuals and derived a total of 10,860 HPO terms with 562 unique terms. Protein-

SUBMITTER: Crawford K 

PROVIDER: S-EPMC8257493 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature