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Lookup NU author(s): Dr Ruth Richardson, Dr Valerie Wilson, Dr Michael Wright
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© 2021 Wiley Periodicals LLC.SCN2A-related disorders include intellectual disability, autism spectrum disorder, seizures, episodic ataxia, and schizophrenia. In this study, the phenotype–genotype association in SCN2A-related disorders was further delineated by collecting detailed clinical and molecular characteristics. Using previously proposed genotype–phenotype hypotheses based on variant function and position, the potential of phenotype prediction from the variants found was examined. Patients were identified through the Deciphering Developmental Disorders study and gene matching strategies. Phenotypic information and variant interpretation evidence were collated. Seventeen previously unreported patients and five patients who had been previously reported (but with minimal phenotypic and segregation data) were included (10 males, 12 females; median age 10.5 years). All patients had developmental delays and the majority had intellectual disabilities. Seizures were reported in 15 of 22 (68.2%), four of 22 (18.2%) had autism spectrum disorder and no patients were reported with episodic ataxia. The majority of variants were de novo. One family had presumed gonadal mosaicism. The correlation of the use of sodium channel-blocking antiepileptic drugs with phenotype or genotype was variable. These data suggest that variant type and position alone can provide some predictive information about the phenotype in a proportion of cases, but more precise assessment of variant function is needed for meaningful phenotype prediction.
Author(s): Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton-Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R, Johnson DS, McEntagart M, Parker MJ, Radley JA, Robertson L, Ruivenkamp C, Rutten JW, Tellez J, Turnpenny PD, Wilson V, Wright M, Balasubramanian M
Publication type: Article
Publication status: Published
Journal: American Journal of Medical Genetics, Part A
Year: 2022
Volume: 188
Issue: 3
Pages: 867-877
Print publication date: 01/03/2022
Online publication date: 11/12/2021
Acceptance date: 20/11/2021
ISSN (print): 1552-4825
ISSN (electronic): 1552-4833
Publisher: John Wiley and Sons Inc
URL: https://doi.org/10.1002/ajmg.a.62595
DOI: 10.1002/ajmg.a.62595
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