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Article 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 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200310 | PMC |
| http://dx.doi.org/10.1016/j.ymgmr.2020.100593 | DOI Listing |
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