A Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes: A Case Report.

IF 1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Internal Medicine Pub Date : 2025-01-15 DOI:10.2169/internalmedicine.4548-24

Jun-Ya Kaimori, Jun Matsuda, Asif Jan, Yuki Kawano, Takayuki Kawaoka, Yuta Asahina, Yohei Doi, Tatsufumi Oka, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Toshihiro Asano, Yusuke Sakaguchi, Yoshitaka Isaka

引用次数: 0

Abstract

We encountered a family with hereditary renal failure, renal medullary cysts, pancreatic hypoplasia, hypomagnesemia, liver enzyme abnormalities, and diabetes mellitus (DM). We identified a novel heterozygous variant of HNF1B (NM_000458.4:c.791dup, p.L264Ffs*30) using whole-exome sequencing of genomic DNA samples from this family. This variant is located in the DNA-binding domain of the HNF1B protein and produces a truncated protein with a de novo sequence, suggesting that this variant changes HNF1B binding to genomic DNA or causes nonsense-mediated mRNA decay. Based on the phenotypes and identified gene variants, this family suffers from autosomal dominant tubulointerstitial kidney disease caused by this HNF1B variant.

查看原文本刊更多论文

一种与常染色体显性小管间质肾病伴广谱肾外表型相关的HNF1B基因新杂合致病性变异：一例报告

我们遇到了一个家族遗传性肾衰竭，肾髓质囊肿，胰腺发育不全，低镁血症，肝酶异常和糖尿病（DM）。我们鉴定出一种新的HNF1B杂合变异（NM_000458.4:c）。791dup, p.L264Ffs*30)使用全外显子组测序从这个家族的基因组DNA样本。该变异位于HNF1B蛋白的DNA结合区域，并产生一个从头开始的截断蛋白，这表明该变异改变了HNF1B与基因组DNA的结合或导致无义介导的mRNA衰变。根据表型和已鉴定的基因变异，该家族患有常染色体显性由该HNF1B变异引起的小管间质性肾病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Internal Medicine 医学-医学：内科

CiteScore

1.90

自引率

8.30%

发文量

审稿时长

2.2 months

期刊介绍： Internal Medicine is an open-access online only journal published monthly by the Japanese Society of Internal Medicine. Articles must be prepared in accordance with "The Uniform Requirements for Manuscripts Submitted to Biomedical Journals (see Annals of Internal Medicine 108: 258-265, 1988), must be contributed solely to the Internal Medicine, and become the property of the Japanese Society of Internal Medicine. Statements contained therein are the responsibility of the author(s). The Society reserves copyright and renewal on all published material and such material may not be reproduced in any form without the written permission of the Society.