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

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

Article

Registro en:

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

1661-8769

https://doi.org/10.1007/s10803-019-03951-z

http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/1355

https://repositorioslatinoamericanos.uchile.cl/handle/2250/7752829

Autor

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

Institución

Universidad de Guadalajara (México)

Resumen

Artículo

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.

Materias

autism spectrum disorder

ASDs

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