Further delineation of phenotypic spectrum of SCN2A‐related disorder

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 pr...

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Published in:American journal of medical genetics. Part A 2022-03, Vol.188 (3), p.867-877
Main Authors: Richardson, Ruth, Baralle, Diana, Bennett, Christopher, Briggs, Tracy, Bijlsma, Emilia K., Clayton‐Smith, Jill, Constantinou, Panayiotis, Foulds, Nicola, Jarvis, Joanna, Jewell, Rosalyn, Johnson, Diana S., McEntagart, Meriel, Parker, Michael J., Radley, Jessica A., Robertson, Lisa, Ruivenkamp, Claudia, Rutten, Julie W., Tellez, James, Turnpenny, Peter D., Wilson, Valerie, Wright, Michael, Balasubramanian, Meena
Format: Article
Language:English
Subjects:
Antiepileptic agents
Ataxia
Autism
autism spectrum disorder
Autism Spectrum Disorder - genetics
Child
Convulsions & seizures
developmental delay
Developmental disabilities
episodic ataxia
Female
Genotype & phenotype
Genotypes
Humans
Intellectual disabilities
intellectual disability
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Male
Mental disorders
Mosaicism
NAV1.2 Voltage-Gated Sodium Channel - genetics
Neurodevelopmental disorders
Patients
Phenotype
Phenotypes
Schizophrenia
SCN2A
Seizures
Seizures - genetics
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cited_by cdi_FETCH-LOGICAL-c4025-4177abc0b1023e42a90957b08d1ced4cbe205919379d35489380351d22128bbb3
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container_title American journal of medical genetics. Part A
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creator Richardson, Ruth
Baralle, Diana
Bennett, Christopher
Briggs, Tracy
Bijlsma, Emilia K.
Clayton‐Smith, Jill
Constantinou, Panayiotis
Foulds, Nicola
Jarvis, Joanna
Jewell, Rosalyn
Johnson, Diana S.
McEntagart, Meriel
Parker, Michael J.
Radley, Jessica A.
Robertson, Lisa
Ruivenkamp, Claudia
Rutten, Julie W.
Tellez, James
Turnpenny, Peter D.
Wilson, Valerie
Wright, Michael
Balasubramanian, Meena
description 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.
doi_str_mv 10.1002/ajmg.a.62595
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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. 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Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2022-03</date><risdate>2022</risdate><volume>188</volume><issue>3</issue><spage>867</spage><epage>877</epage><pages>867-877</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><notes>Funding information</notes><notes>Co‐author DB is supported by NIHR Research Professorship, Grant/Award Number: RP‐2016‐07‐011; DDD Study funding: Health Innovation Challenge Fund, Grant/Award Number: HICF‐1009‐003; DDD Study Funding: Wellcome Sanger Institute, Grant/Award Number: WT098051</notes><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>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. 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subjects Antiepileptic agents
Ataxia
Autism
autism spectrum disorder
Autism Spectrum Disorder - genetics
Child
Convulsions & seizures
developmental delay
Developmental disabilities
episodic ataxia
Female
Genotype & phenotype
Genotypes
Humans
Intellectual disabilities
intellectual disability
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Male
Mental disorders
Mosaicism
NAV1.2 Voltage-Gated Sodium Channel - genetics
Neurodevelopmental disorders
Patients
Phenotype
Phenotypes
Schizophrenia
SCN2A
Seizures
Seizures - genetics
title Further delineation of phenotypic spectrum of SCN2A‐related disorder
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