• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

一例甲状旁腺功能减退、耳聋和肾发育不良（HDR）综合征患者，其存在一种新的移码变异，即p.W10Cfs40，且无肾脏畸形。

A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in , p.W10Cfs40, lacks kidney malformation.

作者信息

Kishi Haruka, Jojima Teruo, Kogai Takahiko, Iijima Toshie, Ohira Eriko, Tanuma Dai, Konno Sachiyo, Kato Kanako, Kezuka Atsumi, Akimoto Kazumi, Sakumoto Junko, Hishinuma Akira, Tomaru Takuya, Makita Noriko, Usui Isao, Aso Yoshimasa

机构信息

Department of Endocrinology and Metabolism Dokkyo Medical University Mibu, Tochigi Japan.

Department of Infection Control and Clinical Laboratory Medicine Dokkyo Medical University Mibu Shimotsuga, Tochigi Japan.

出版信息

Clin Case Rep. 2020 Aug 14;8(12):2619-2624. doi: 10.1002/ccr3.3186. eCollection 2020 Dec.

DOI:10.1002/ccr3.3186
PMID:33363791
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7752573/
Abstract

Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history. Our case carried a de novo variant in causative gene, but presenting no renal dysplasia or family history. The phenotypic heterogeneity raises a caution for diagnosis.

摘要

常染色体显性遗传性甲状旁腺功能减退、耳聋和肾发育异常（HDR）综合征通常根据这三种特征的表现及阳性家族史来诊断。我们的病例在致病基因中存在一个新发变异，但未表现出肾发育异常或家族史。这种表型异质性对诊断提出了警示。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d7c/7752573/e1902b2e8117/CCR3-8-2619-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d7c/7752573/b2a71eec0565/CCR3-8-2619-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d7c/7752573/e1902b2e8117/CCR3-8-2619-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d7c/7752573/b2a71eec0565/CCR3-8-2619-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d7c/7752573/e1902b2e8117/CCR3-8-2619-g002.jpg

相似文献

1
A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in , p.W10Cfs40, lacks kidney malformation.一例甲状旁腺功能减退、耳聋和肾发育不良（HDR）综合征患者，其存在一种新的移码变异，即p.W10Cfs40，且无肾脏畸形。
Clin Case Rep. 2020 Aug 14;8(12):2619-2624. doi: 10.1002/ccr3.3186. eCollection 2020 Dec.
2
A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.一个新的 GATA3 移码变异（p.Ala17ProfsTer178）导致一个日本家族的 HDR 综合征。
Endocr J. 2024 Nov 1;71(11):1077-1086. doi: 10.1507/endocrj.EJ24-0147. Epub 2024 Aug 27.
3
Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene.一名被诊断患有甲状旁腺功能减退、感音神经性耳聋和肾发育不良（HDR）综合征且GATA3基因存在新突变的患者出现的不寻常增殖性肾小球肾炎。
Intern Med. 2017;56(11):1393-1397. doi: 10.2169/internalmedicine.56.7930. Epub 2017 Jun 1.
4
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.伴有GATA3基因新突变的HDR综合征，类似先天性X连锁镫骨井喷：一例报告
BMC Med Genet. 2017 Oct 26;18(1):121. doi: 10.1186/s12881-017-0484-6.
5
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.导致甲状旁腺功能减退 - 耳聋 - 肾脏（HDR）发育异常综合征的GATA3突变的功能特征：深入了解GATA3转录因子的DNA结合机制
Hum Mol Genet. 2007 Feb 1;16(3):265-75. doi: 10.1093/hmg/ddl454. Epub 2007 Jan 8.
6
The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.首例经临床和分子学调查确诊的韩国遗传性齿釉质发育不全综合征病例。
Yonsei Med J. 2015 Jan;56(1):300-3. doi: 10.3349/ymj.2015.56.1.300.
7
A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.一个患有甲状旁腺功能减退、耳聋和肾发育不良（HDR）综合征的日本家庭中，GATA3基因出现一种新的功能丧失突变（p.R299Q）。
BMC Endocr Disord. 2015 Oct 30;15:66. doi: 10.1186/s12902-015-0065-7.
8
Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report.肺鳞状细胞癌合并甲状旁腺功能减退伴感音神经性耳聋和肾发育不良综合征：一例报告
Onco Targets Ther. 2018 Mar 20;11:1595-1599. doi: 10.2147/OTT.S161420. eCollection 2018.
9
Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations.甲状旁腺功能减退-耳聋-肾发育不良综合征：首个 GATA3 基因突变被鉴定 20 年后
Hum Mutat. 2020 Aug;41(8):1341-1350. doi: 10.1002/humu.24052. Epub 2020 Jun 11.
10
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.甲状旁腺功能减退、耳聋和肾发育不良综合征的临床及突变谱
Nephrol Dial Transplant. 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271.

引用本文的文献

1
Case report: a case of hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome.病例报告：一例甲状旁腺功能减退-感音神经性耳聋-肾发育不良综合征病例。
Front Genet. 2025 Apr 22;16:1501427. doi: 10.3389/fgene.2025.1501427. eCollection 2025.
2
A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.一个新的 GATA3 移码变异（p.Ala17ProfsTer178）导致一个日本家族的 HDR 综合征。
Endocr J. 2024 Nov 1;71(11):1077-1086. doi: 10.1507/endocrj.EJ24-0147. Epub 2024 Aug 27.
3
Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome.

本文引用的文献

1
Barakat syndrome revisited.再谈巴拉卡特综合征。
Am J Med Genet A. 2018 Jun;176(6):1341-1348. doi: 10.1002/ajmg.a.38693. Epub 2018 Apr 16.
2
A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernández et al.一例伴有严重女性生殖道畸形的HDR综合征新病例：评埃尔南德斯等人的“西班牙家族性甲状旁腺功能减退、耳聋和肾发育不良（HDR）综合征伴女性生殖道畸形患者中GATA3转录因子编码基因的新突变”
Am J Med Genet A. 2011 Sep;155A(9):2329-30. doi: 10.1002/ajmg.a.34153. Epub 2011 Aug 10.
3
两个患有甲状旁腺功能减退、耳聋和肾发育不良（HDR）综合征的意大利家族的临床和分子特征。
J Endocrinol Invest. 2024 Feb;47(2):469-478. doi: 10.1007/s40618-023-02171-8. Epub 2023 Aug 10.
Novel dominant-negative mutant of GATA3 in HDR syndrome.
HDR 综合征中的新型 GATA3 显性负性突变体。
J Mol Med (Berl). 2011 Jan;89(1):43-50. doi: 10.1007/s00109-010-0702-6. Epub 2010 Dec 1.
4
HDR syndrome: a novel "de novo" mutation in GATA3 gene.HDR综合征：GATA3基因中的一种新型“从头”突变。
Am J Med Genet A. 2009 Feb 15;149A(4):770-5. doi: 10.1002/ajmg.a.32689.
5
Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.西班牙一例伴有女性生殖道畸形的家族性甲状旁腺功能减退、耳聋和肾发育不良（HDR）综合征患者中，编码GATA3转录因子的基因发生新型突变。
Am J Med Genet A. 2007 Apr 1;143A(7):757-62. doi: 10.1002/ajmg.a.31617.
6
Interaction of GATA-3/T-bet transcription factors regulates expression of sialyl Lewis X homing receptors on Th1/Th2 lymphocytes.GATA-3/T-bet转录因子的相互作用调节Th1/Th2淋巴细胞上唾液酸化路易斯X归巢受体的表达。
Proc Natl Acad Sci U S A. 2006 Nov 7;103(45):16894-9. doi: 10.1073/pnas.0607926103. Epub 2006 Oct 30.
7
Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population.在中国人群中，鉴定出GATA3基因的三种新突变，这些突变导致家族性甲状旁腺功能减退和耳聋。
J Clin Endocrinol Metab. 2006 Nov;91(11):4587-92. doi: 10.1210/jc.2006-0864. Epub 2006 Aug 15.
8
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.GATA3异常与HDR综合征的表型谱
J Med Genet. 2001 Jun;38(6):374-80. doi: 10.1136/jmg.38.6.374.
9
GATA3 haplo-insufficiency causes human HDR syndrome.GATA3单倍体不足导致人类高免疫球蛋白D和周期性发热综合征。
Nature. 2000 Jul 27;406(6794):419-22. doi: 10.1038/35019088.
10
Embryonic expression of the human GATA-3 gene.人类GATA-3基因的胚胎表达。
Mech Dev. 1999 Jul;85(1-2):183-7. doi: 10.1016/s0925-4773(99)00088-x.