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Journal of Autism and Developmental Disorders

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02-03-2019 | Letter to the Editor

Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder

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

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 6/2020

Excerpt

Autism spectrum disorders (ASDs) are a group of heterogeneous neurodevelopmental disorders with hundreds of related genes. Among these, CNTN6 (Contactin-6) has recently been associated. Herein, we describe a paternally inherited CNTN6 variant predicted in silico to be deleterious in a patient presenting with language delay, poor social interaction, stereotypic behavior, and sensory-motor and hearing problems. Additional genomic data by whole-exome sequencing (WES) suggest, however, that a concomitant pathogenic genetic background would be needed to explain the phenotype along with this CNTN6 variant. …

vorige artikel Sensory Features as a Marker of Autism Spectrum Disorders

volgende artikel Review: National Guideline for the Assessment and Diagnosis of Autism Spectrum Disorders in Australia (Whitehouse, Evans et al. 2018)

Alleen toegankelijk voor geautoriseerde gebruikers

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Titel: Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder
Auteurs: José E. García-Ortiz
Ana I. Zarazúa-Niño
Angélica A. Hernández-Orozco
Edwin A. Reyes-Oliva
Carlos E. Pérez-Ávila
Luis E. Becerra-Solano
Kame A. Galán-Huerta
Ana M. Rivas-Estilla
Carlos Córdova-Fletes
Publicatiedatum: 02-03-2019
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 6/2020
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-019-03951-z

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