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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 |
Files in This Item:
File | Description | Size | Format | |
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CaseReport_Whole Exome Sequencing.pdf | Documento | 1.39 MB | Adobe PDF | View/Open |
Enlace a_Case Report_Whole Exome Sequencing Unveils.htm | Enlace a publicación | 44.59 kB | HTML | View/Open |
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