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Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.

作者信息

Sivagnanam Mamata, Janecke Andreas R, Müller Thomas, Heinz-Erian Peter, Taylor Sharon, Bird Lynne M

机构信息

Divisions of Pediatric Gastroenterology, Hepatology and Nutrition Dysmorphology and Genetics, Department of Pediatrics, University of California Rady Children's Hospital, San Diego, California, USA Division of Clinical Genetics Department of Pediatrics II, Innsbruck Medical University, Innsbruck, Austria.

出版信息

Clin Dysmorphol. 2010 Jan;19(1):48. doi: 10.1097/MCD.0b013e328331de38.

DOI:10.1097/MCD.0b013e328331de38
PMID:20009592
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6709868/
Abstract
摘要

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Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.患有综合征性簇绒性肠病的病例存在先天性钠腹泻中所见的SPINT2突变。
Clin Dysmorphol. 2010 Jan;19(1):48. doi: 10.1097/MCD.0b013e328331de38.
2
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.先天性丛状肠病的遗传学特征：EPCAM 相关表型和 SPINT2 参与综合征型。
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Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.SPINT2基因的突变会导致一种综合征形式的先天性钠腹泻。
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Biallelic variants of the first Kunitz domain of SPINT2 cause a non-syndromic form of congenital diarrhea and tufting enteropathy.SPINT2第一个Kunitz结构域的双等位基因变异导致一种非综合征型先天性腹泻和簇状肠病。
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SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.在先天性钠腹泻/发结性肠病中发现的 SPINT2 (HAI-2) 错义变体影响 HAI-2 抑制前列腺蛋白酶原的能力，但不影响组织蛋白酶抑制剂的能力。
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Syndromic congenital diarrhea because of the SPINT2 mutation showing enterocyte tufting and unique electron microscopy findings.因SPINT2突变导致的综合征性先天性腹泻，表现为肠上皮细胞簇状改变及独特的电子显微镜检查结果。
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Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE.综合征性先天性腹泻：在阿联酋发现新的SPINT2突变
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Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely.孤立性后鼻孔和肠道闭锁：丝氨酸蛋白酶抑制剂 2 型（SPINT2）基因突变的致病作用不太可能。
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N-glycosylation on Asn-57 is required for the correct HAI-2 protein folding and protease inhibitory activity.Asn-57 上的 N-糖基化对于正确的 HAI-2 蛋白折叠和蛋白酶抑制活性是必需的。
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Targeted HAI-2 deletion causes excessive proteolysis with prolonged active prostasin and depletion of HAI-1 monomer in intestinal but not epidermal epithelial cells.靶向 HAI-2 缺失导致肠道而非表皮上皮细胞中过度蛋白水解，导致活性前列腺素原延长和 HAI-1 单体耗竭。
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本文引用的文献

1
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.SPINT2基因的突变会导致一种综合征形式的先天性钠腹泻。
Am J Hum Genet. 2009 Feb;84(2):188-96. doi: 10.1016/j.ajhg.2009.01.004. Epub 2009 Jan 29.
2
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.肌球蛋白Ⅴb（MYO5B）突变导致微绒毛包涵体病并破坏上皮细胞极性。
Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24.
3
Identification of EpCAM as the gene for congenital tufting enteropathy.鉴定EpCAM为先天性簇状肠病的致病基因。
Gastroenterology. 2008 Aug;135(2):429-37. doi: 10.1053/j.gastro.2008.05.036. Epub 2008 May 15.
4
A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities.一种伴有眼科、血液学及毛发异常的簇状肠病和后鼻孔闭锁新综合征。
Clin Dysmorphol. 2007 Oct;16(4):211-21. doi: 10.1097/MCD.0b013e328274264b.
5
Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes.先天性钠腹泻是一种钠/质子交换的常染色体隐性疾病，但与已知的候选基因无关。
Gastroenterology. 2000 Dec;119(6):1506-13. doi: 10.1053/gast.2000.20514.