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

Centro Universitario de los Altos

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Title:	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 Elías Zarazúa Niño, Ana Itzel Hernández Orozco, Angélica Alejandra Reyes Oliva, Edwin A Pérez Ávila, Carlos E. Becerra Solano, Luis Eduardo Galán Huerta, Kame A Rivas Estilla, Ana María Córdova Fletes, Carlos
Keywords:	autism spectrum disorder ASDs
Issue Date:	Jul-2021
Publisher:	Springer
Citation:	García-Ortiz, J.E., Zarazúa-Niño, A.I., Hernández-Orozco, A.A. et al. Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder. J Autism Dev Disord 50, 2247–2251 (2020). https://doi.org/10.1007/s10803-019-03951-z
Series/Report no.:	J Autism Dev Disord;50, 2247–2251 (2020)
Abstract:	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.
Description:	Artículo
URI:	http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/1355
ISSN:	1661-8769
Appears in Collections:	2412 Artículos

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