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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.

Authors :
García-Ortiz, José E.
Zarazúa-Niño, Ana I.
Hernández-Orozco, Angélica A.
Reyes-Oliva, Edwin A.
Pérez-Ávila, Carlos E.
Becerra-Solano, Luis E.
Galán-Huerta, Kame A.
Rivas-Estilla, Ana M.
Córdova-Fletes, Carlos
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.

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