Heterozygous SHANK3 mutations or partial deletions of the long arm of chromosome 22, also known as Phelan–McDermid syndrome, result in a syndromic form of the autism spectrum as well as in global developmental delay, intellectual disability, and several neuropsychiatric comorbidities. The exact pathophysiological mechanisms underlying the disease are still far from being deciphered but studies of SHANK3 models have contributed to the understanding of how the loss of the synaptic protein SHANK3 affects neuronal function.

中文翻译：

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SHANK3缺乏症中严重的白质损害：一项人类和转化研究。

杂合的SHANK3突变或22号染色体长臂的部分缺失，也称为Phelan–McDermid综合征，导致自闭症谱系的综合症形式以及全球发育迟缓，智力残疾和几种神经精神病合并症。该疾病潜在的确切病理生理机制仍远未阐明，但SHANK3模型的研究有助于了解突触蛋白SHANK3的缺失如何影响神经元功能。