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Copy number variations in cryptogenic cerebral palsy
- Source :
- Neurology. 84(16)
- Publication Year :
- 2014
-
Abstract
- To determine the prevalence and characteristics of copy number variations (CNVs) in children with cerebral palsy (CP) of unknown etiology, comprising approximately 20% of the CP population.Fifty-two participants (age 10.5 ± 7.8 years; Gross Motor Function Classification System scale 2.8 ± 1.3) with nonprogressive pyramidal and/or extrapyramidal signs since infancy and no identified etiology were enrolled. Individuals with evidence of acquired causes were excluded. Participants underwent neurologic and clinical genetic examinations before the genomic testing. Chromosomal microarray analysis to detect CNVs was performed using the Affymetrix platform. CNVs identified were classified as pathogenic, likely pathogenic, likely benign, or benign. Only pathogenic and likely pathogenic CNVs were defined as clinically significant.Thirty-nine CNVs were found in 25 of 52 participants (48%). Sixteen participants (31%) had clinically significant CNVs: 10 pathogenic and 6 likely pathogenic, of which 7 were not previously associated with motor disability. Nine participants had likely benign CNVs. Clinically significant CNVs were more frequently de novo (12/16; p0.001) including in 5 of 8 individuals who had a first- or second-degree relative with a major neurologic disorder. Dysmorphic features and nonmotor comorbidities were more prevalent in individuals with clinically significant CNVs (p0.05 for both).CNVs, most frequently de novo, are common in individuals with cryptogenic CP. We recommend CNV testing in individuals with CP of unknown etiology.
- Subjects :
- Male
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
endocrine system diseases
Adolescent
DNA Copy Number Variations
Population
Biology
Bioinformatics
Cerebral palsy
Likely benign
Internal medicine
mental disorders
medicine
Prevalence
Humans
Copy-number variation
Israel
education
Child
Likely pathogenic
education.field_of_study
Cerebral Palsy
Gross Motor Function Classification System
medicine.disease
Child, Preschool
Etiology
Female
Neurology (clinical)
Motor disability
Subjects
Details
- ISSN :
- 1526632X
- Volume :
- 84
- Issue :
- 16
- Database :
- OpenAIRE
- Journal :
- Neurology
- Accession number :
- edsair.doi.dedup.....ec6bce64d41437c118bf482f3b816465