Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2.
Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2.
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由于KRT2复发性突变而导致的表面表皮溶虫病的深层表型。
DOI：
10.3390/ijms23147791
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发表时间：
2022-07-14
影响因子：
5.6
通讯作者：
中科院分区：
文献类型：
--
作者：
浅表性表皮增生性鱼鳞病是一种常染色体显性遗传性鱼鳞病。SEI是由KRT2突变引起的，在出生时经常表现出红皮病和广泛的水泡。我们报告的临床表现，两名患者从一个日本家庭与SEI引起的热点突变，p.Glu487Lys，在KRT2。此外，我们总结了以前的报告与相同的突变的SEI患者。两名患者中的一名在7个月大时发病。另一名患者的发病年龄不详，但在儿童时期。两例患者均未出现红皮病。为了进行深入的表型分析，我们研究了34例报告的p.Glu487Lys突变的SEI病例的发病年龄和红皮病的频率，包括目前的病例。在有充分临床信息的病例中，44.4%的病例是由于KRT 2中的p.Glu487Lys引起的，这些病例发生在出生时。在KRT 2中具有p.Glu487Lys的病例中观察到11.1%的红皮病。
Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant inherited ichthyosis. SEI is caused by mutations in KRT2 and frequently shows erythroderma and widespread blistering at birth. We report the clinical manifestations of two patients from a Japanese family with SEI caused by a hotspot mutation, p.Glu487Lys, in KRT2. In addition, we summarize previous reports on SEI patients with the identical mutation. One of the two patients had disease onset at the age of 7 months. The other patient’s age of onset is unknown, but it was in childhood. Neither of the two patients showed erythroderma. To perform deep phenotyping, we studied the age of onset and the frequency of erythroderma in 34 reported SEI cases with the p.Glu487Lys mutation, including the present cases. Among the cases with sufficient clinical information, 44.4% of the cases that were due to p.Glu487Lys in KRT2 occurred at birth. Erythroderma was observed in 11.1% of the cases with p.Glu487Lys in KRT2.
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影响因子：
7
作者：
Ng, PC;Henikoff, S
通讯作者：
Henikoff, S
影响因子：
1.5
作者：
Cervantes, Tessa;Pham, Catherine;Browning, John C.
通讯作者：
Browning, John C.
影响因子：
6.5
作者：
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通讯作者：
Bowden, PE
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作者：
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Judge, M.
影响因子：
6.5
作者：
MCLEAN, WHI;MORLEY, SM;LEIGH, IM
通讯作者：
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