4.5 Article

Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene

期刊

JOURNAL OF DERMATOLOGY
卷 42, 期 6, 页码 642-645

出版社

WILEY-BLACKWELL
DOI: 10.1111/1346-8138.12846

关键词

lamellar ichthyosis; mutation; next-generation sequencing; pseudoexon; transglutaminase 1

资金

  1. JSPS KAKENHI [26461668]
  2. Ministry of Health, Labor and Welfare, Japan [H23-028]
  3. Grants-in-Aid for Scientific Research [26461668] Funding Source: KAKEN

向作者/读者索取更多资源

We report a case of a 12-year-old boy who was born as a collodion baby after which thick scales developed on his entire body surface. His younger brother showed a similar skin condition. Arcuate-shaped, large, brownish scales covered his face with ectropion. His lower legs were also covered with larger thick, brownish, plate-like scales, but other areas were covered with smaller scales. Next-generation sequencing for exons and splice sites detected a stop-gain TGM1 mutation leading to p.R71* in transglutaminase 1 (TG1). Another mutation identified was a cryptic mutation in intron 3 that activated a pseudoexon, which was detected by RNA-based analysis of hair bulbs. The deep intronic mutation caused another truncation mutation, p.N171Tfs(*)45, in TG1. An insitu TG1 assay demonstrated that TG1 activity was totally lost in this case. Thus, we conclude that the severe phenotype of the patient developed due to those novel compound heterozygous null truncation mutations in TGM1.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.5
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据