In 2019, Alsaif et al. reported a novel MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma)‐like syndrome due to mutations in AP1B1, which encodes the large β subunit of the adaptor‐related protein complex 1 (AP‐1).¹ Another group independently reported a novel form of syndromic ichthyosis caused by AP1B1 mutations: “ichthyosis, failure to thrive, thrombocytopenia, photophobia, and progressive hearing loss”.²

中文翻译：

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由 AP1B1 复合杂合突变引起的 MEDNIK 样综合征

2019 年，Alsaif等人。报道了一种新的 MEDNIK（精神发育迟滞、肠病、耳聋、周围神经病、鱼鳞病和角化病）样综合征，原因是AP1B1突变，它编码适配器相关蛋白复合物 1 (AP-1) 的大 β 亚基。¹另一组独立报道了一种由AP1B1突变引起的新型综合性鱼鳞病：“鱼鳞病、发育迟缓、血小板减少、畏光和进行性听力损失”。²