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Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder.
- Source :
-
Journal of Autism & Developmental Disorders . Jun2020, Vol. 50 Issue 6, p2247-2251. 5p. 1 Chart, 1 Graph. - Publication Year :
- 2020
-
Abstract
- The article presents a case study of a 10-year-old autism spectrum disorder (ASD) patient with paternally inherited Contactin-6 (CNTN6) protein. Topics discussed include the behavioral symptoms presented by the patient such as aggression and ritualized activities which confirmed ASD at the age of three, results of the genomic scan performed by whole-exome sequencing (WES), and the characteristics of the additional single-nucleotide variants observed in the patient.
- Subjects :
- *DIAGNOSIS of autism
*GENETICS of autism
*ALLELES
*AUTISM
*ELECTROENCEPHALOGRAPHY
*HEARING impaired children
*HYDROCEPHALUS
*LANGUAGE disorders
*MAGNETIC resonance imaging
*MICROCEPHALY
*GENETIC mutation
*PHYSICAL diagnosis
*STEREOTYPES
*PHENOTYPES
*GENETIC markers
*LISSENCEPHALY
*GENOMICS
*SENSORY disorders
*SEQUENCE analysis
Subjects
Details
- Language :
- English
- ISSN :
- 01623257
- Volume :
- 50
- Issue :
- 6
- Database :
- Academic Search Index
- Journal :
- Journal of Autism & Developmental Disorders
- Publication Type :
- Academic Journal
- Accession number :
- 143506752
- Full Text :
- https://doi.org/10.1007/s10803-019-03951-z