Phelan–McDermid syndrome (PMD) is usually not only caused by 22q13.3 deletion but also pathogenic variants (mutations) of SHANK3 gene. PMD is characterized by global intellectual disability, severely delayed or absent speech, and features of autism spectrum disorder and susceptibility to psychotic behavior. Here, we describe a neurocognitive follow-up and genetic etiology for two siblings with PMD.

中文翻译：

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由于新的 SHANK3 剪接位点突变，对患有 Phelan-McDermid 综合征的成年兄弟姐妹的神经认知随访

Phelan-McDermid 综合征 (PMD) 通常不仅由 22q13.3 缺失引起，而且与SHANK3基因的致病变异（突变）有关。PMD 的特点是全球智力残疾、严重延迟或缺席言语，以及自闭症谱系障碍和对精神病行为的易感性。在这里，我们描述了两个患有 PMD 的兄弟姐妹的神经认知随访和遗传病因。