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
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Uitgave 6/2020
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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. …