{"title":"HIST1H1E syndrome with deficiency in multiple pituitary hormones.","authors":"Yuko Tanabe, Naohiro Nomura, Miki Minami, Junji Takaya, Nobuhiko Okamoto, Kumiko Yanagi, Tadashi Kaname, Yoshimitsu Fujii, Kazunari Kaneko","doi":"10.1297/cpe.2023-0002","DOIUrl":null,"url":null,"abstract":"● We report the first case of HIST1H1E syndrome with hyposecretion of several pituitary hormones. ● De novo frameshift H1-4 mutations (c.441dup: p. (Lys148Glnfs*48)) were detected. ● A mutation at the C-terminus of H1-4 may result in DNA CpG hypomethylation and in nonspecific enhancement of gene expression in the central nervous system","PeriodicalId":72619,"journal":{"name":"","volume":"32 3","pages":"195-198"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/34/e7/cpe-32-195.PMC10288291.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1297/cpe.2023-0002","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
● We report the first case of HIST1H1E syndrome with hyposecretion of several pituitary hormones. ● De novo frameshift H1-4 mutations (c.441dup: p. (Lys148Glnfs*48)) were detected. ● A mutation at the C-terminus of H1-4 may result in DNA CpG hypomethylation and in nonspecific enhancement of gene expression in the central nervous system
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