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https://dora.health.qld.gov.au/qldresearchjspui/handle/1/5058| Title: | Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome | Authors: | Ewing, A. D. Dawson, P. A. Heussler, Helen Prins, J. B. Lee, S. |
Issue Date: | 2020 | Source: | 23 , 2020 | Journal: | Molecular Genetics and Metabolism Reports | Abstract: | 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 complex genetic disorders such as autism, and actionable incidental findings can offer the potential for therapeutic interventions.L20057047142020-05-05 | DOI: | 10.1016/j.ymgmr.2020.100593 | Resources: | https://www.embase.com/search/results?subaction=viewrecord&id=L2005704714&from=exporthttp://dx.doi.org/10.1016/j.ymgmr.2020.100593 | | Keywords: | pyelonephritis;school child;whole genome sequencing;human;genetic variability;gene;follow up;DNA sequencing;incidental finding;abscess;adenohypophysis;androgen therapy;ANOS1 gene;article;autism;behavior disorder;bone age;case report;clinical examination;clinical article;genomic DNAtestosterone;Kallmann syndrome;male;micropenis;nonsense mutation;nuclear magnetic resonance imaging;child | Type: | Article |
| Appears in Sites: | Children's Health Queensland Publications |
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