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.

中文翻译：

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对非典型自闭症病例的全基因组研究确定了一个新的ANOS1突变，随后对Kallmann综合征进行了诊断。

我们报道了一个10岁的自闭症男孩的全基因组测序（WGS）可行的第二发现。WGS在几个基因中鉴定出非同义变体，包括ANOS1基因中的无意义突变，这是X连锁的Kallmann综合征的病因。WGS可以提供​​对复杂遗传病（例如自闭症）的见识，而可行的附带发现可以提供治疗干预的潜力。