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

dc.creatorGarcía Ortiz, José Elías
dc.creatorZarazúa Niño, Ana Itzel
dc.creatorHernández Orozco, Angélica Alejandra
dc.creatorReyes Oliva, Edwin A
dc.creatorPérez Ávila, Carlos E.
dc.creatorBecerra Solano, Luis Eduardo
dc.creatorGalán Huerta, Kame A
dc.creatorRivas Estilla, Ana María
dc.creatorCórdova Fletes, Carlos
dc.date2022-06-27T16:26:48Z
dc.date2022-06-27T16:26:48Z
dc.date2021-07
dc.date.accessioned2023-07-21T21:45:27Z
dc.date.available2023-07-21T21:45:27Z
dc.identifierGarcía-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
dc.identifier1661-8769
dc.identifierhttps://doi.org/10.1007/s10803-019-03951-z
dc.identifierhttp://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/1355
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/7752829
dc.descriptionArtículo
dc.descriptionAutism 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.
dc.languageen
dc.publisherSpringer
dc.relationJ Autism Dev Disord;50, 2247–2251 (2020)
dc.subjectautism spectrum disorder
dc.subjectASDs
dc.titleCase Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder
dc.typeArticle


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