Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome

We report an actionable secondary finding from whole-genome sequencing (WGS) of a 10-year-old boy with autism. WGS identified non-synonymous variants in several genes, including a nonsense mutation in the ANOS1 gene which is an X-linked cause of Kallmann syndrome. WGS can provide insights into compl...

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Detalles Bibliográficos
Autores principales: Dawson, Paul A., Lee, Soohyun, Ewing, Adam D., Prins, Johannes B., Heussler, Helen S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200310/
https://www.ncbi.nlm.nih.gov/pubmed/32382505
http://dx.doi.org/10.1016/j.ymgmr.2020.100593

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