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突变可能通过上位效应改善缺失患者的肾单位肾痨进展。

mutation may epistatically ameliorate nephronophthisis progression in patients with deletion.

作者信息

Watanabe Saki, Ino Jun, Fujimaru Takuya, Taneda Sekiko, Akihisa Taro, Makabe Shiho, Kataoka Hiroshi, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Nitta Kosaku, Mochizuki Toshio

机构信息

Department of Medicine, Kidney Center Tokyo Women's Medical University Shinjuku-ku Japan.

Department of Medicine, Division of Nephrology Todachuo General Hospital Toda Japan.

出版信息

Clin Case Rep. 2019 Jan 9;7(2):336-339. doi: 10.1002/ccr3.1947. eCollection 2019 Feb.

DOI:10.1002/ccr3.1947
PMID:30847201
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6389502/
Abstract

We report a patient with adult-onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of and a heterozygous mutation. We suggest that the mutation may have epistatically ameliorated NPHP disease progression and that the screening of larger cohorts for similar possible epistatic effects is needed.

摘要

我们报告了一名成年发病的肾单位肾痨（NPHP）患者，该患者被鉴定为存在纯合子全基因缺失以及杂合子突变。我们认为该突变可能通过上位效应改善了NPHP的疾病进展，并且需要对更大的队列进行筛查以寻找类似的可能上位效应。

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Clin Case Rep. 2019 Jan 9;7(2):336-339. doi: 10.1002/ccr3.1947. eCollection 2019 Feb.
2
Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in .两个中国肾痨家系携带一个复合杂合缺失，并伴有一个点突变。
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本文引用的文献

1
(Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.(Nephrocystin-1) 基因缺失导致成人终末期肾病。
J Am Soc Nephrol. 2018 Jun;29(6):1772-1779. doi: 10.1681/ASN.2017111200. Epub 2018 Apr 13.
2
Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease.肾脏增大和多个肝囊肿形成提示成人散发性多囊肾病与 PKD1/2 基因突变有关。
Clin Genet. 2018 Jul;94(1):125-131. doi: 10.1111/cge.13249. Epub 2018 Apr 11.
3
Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.
多种基因引发一种疾病？肾单位肾痨（NPHP）及NPHP相关疾病的遗传学
Front Pediatr. 2018 Jan 5;5:287. doi: 10.3389/fped.2017.00287. eCollection 2017.
4
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance.一例由寡基因遗传解释的严重婴儿型肾单位肾痨家族病例。
Eur J Med Genet. 2017 Jun;60(6):321-325. doi: 10.1016/j.ejmg.2017.04.002. Epub 2017 Apr 6.
5
Ciliopathies.纤毛病
Cold Spring Harb Perspect Biol. 2017 Mar 1;9(3):a028191. doi: 10.1101/cshperspect.a028191.
6
Identification of an NPHP1 deletion causing adult form of nephronophthisis.鉴定导致成人型肾单位肾痨的NPHP1基因缺失
Ir J Med Sci. 2016 Aug;185(3):589-595. doi: 10.1007/s11845-015-1312-7. Epub 2015 Jun 4.
7
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.通过从标记的混合DNA中进行靶向捕获和下一代测序对视网膜营养不良患者进行突变筛查。
PLoS One. 2014 Aug 18;9(8):e104281. doi: 10.1371/journal.pone.0104281. eCollection 2014.
8
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.在一个全球范围内的 1056 名肾单位-肠病相关纤毛病患者的队列中鉴定了 99 个新突变。
Hum Genet. 2013 Aug;132(8):865-84. doi: 10.1007/s00439-013-1297-0. Epub 2013 Apr 5.
9
Autosomal dominant polycystic kidney disease: recent advances in pathogenesis and potential therapies.常染色体显性多囊肾病：发病机制和潜在治疗方法的最新进展。
Clin Exp Nephrol. 2013 Jun;17(3):317-26. doi: 10.1007/s10157-012-0741-0. Epub 2012 Nov 29.
10
Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.常染色体显性多囊肾病中的先天性肝纤维化和门静脉高压症。
J Pediatr Gastroenterol Nutr. 2012 Jan;54(1):83-9. doi: 10.1097/MPG.0b013e318228330c.