MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.
MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.
复制标题
AP1B1 复合杂合突变导致的 MEDNIK 样综合征。
DOI：
10.1111/jdv.17098
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发表时间：
2021
期刊：
影响因子：
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通讯作者：
Akiyama M.
中科院分区：
文献类型：
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作者：
Ito Y;Takeichi T;Igari S;Mori T;Ono A;Suyama K;Takeuchi S;Muro Y;Ogi T;Hosoya M;Yamamoto T;Akiyama M.
AP 1B 1复合杂合突变引起的MEDNIK样综合征关于AP 1B 1 i突变引起的MEDNIK样综合征和综合征性鱼鳞病，仅报道了来自四个家族的五名患者。1、2各证型的临床特点各不相同。2019年，Alsaif I et al i.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，该综合征是由于编码接头相关蛋白复合物1（AP-1）的大亚基的IAP 1B 1 i突变引起的。1另一组独立报道了一种由I AP 1B 1 i突变引起的新形式的综合征性鱼鳞病：“鱼鳞病、发育不良、血小板减少症、恐惧症和进行性听力损失”。目前的患者是一名2岁的日本男孩，是第一个没有血缘关系的父母所生的孩子。[摘自文章]
MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1 Regarding MEDNIK-like syndrome and the syndromic ichthyosis due to I AP1B1 i mutations, only five patients from four families have been reported. 1, 2 The clinical features of the syndromes vary among the patients. In 2019, Alsaif I et al i. reported a novel MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma)-like syndrome due to mutations in I AP1B1 i, which encodes the large subunit of the adaptor-related protein complex 1 (AP-1). 1 Another group independently reported a novel form of syndromic ichthyosis caused by I AP1B1 i mutations:'ichthyosis, failure to thrive, thrombocytopenia, photophobia and progressive hearing loss'. 2 The present patient is a two-year-old Japanese boy, the first child born to unrelated parents.[Extracted from the article]