新型MYRF基因新发突变：几种临床症状重叠综合征的可能病因 - Suppr

Suppr

超能文献

Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes.

作者信息

Tanaka Hiroyuki, Isojima Tsuyoshi, Kimura Yuki, Inuzuka Ryo, Kitanaka Sachiko

机构信息

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

出版信息

Congenit Anom (Kyoto). 2021 Mar;61(2):68-69. doi: 10.1111/cga.12402. Epub 2020 Nov 18.

DOI:10.1111/cga.12402

PMID:33179293

Abstract

摘要

相似文献

Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes.新型MYRF基因新发突变：几种临床症状重叠综合征的可能病因

Congenit Anom (Kyoto). 2021 Mar;61(2):68-69. doi: 10.1111/cga.12402. Epub 2020 Nov 18.

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.髓鞘调节因子（MYRF）中的新生变异作为心脏和泌尿生殖系统异常新综合征的候选因素。

Am J Med Genet A. 2018 Apr;176(4):969-972. doi: 10.1002/ajmg.a.38620. Epub 2018 Feb 15.

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.先天性膈疝中的从头变异确定 MYRF 为一种新综合征，并揭示与其他发育障碍的遗传重叠。

PLoS Genet. 2018 Dec 10;14(12):e1007822. doi: 10.1371/journal.pgen.1007822. eCollection 2018 Dec.

Further delineation of the KAT6B molecular and phenotypic spectrum.KAT6B分子和表型谱的进一步描绘。

Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248. Epub 2014 Nov 26.

Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.新发现的 MYRF 基因截断突变导致常染色体显性遗传的高度远视，定位于 11p12-q13.3。

Hum Genet. 2019 Oct;138(10):1077-1090. doi: 10.1007/s00439-019-02039-z. Epub 2019 Jun 6.

Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.头-心-面综合征中6q21-6q22.1缺失的证实及该相邻基因缺失综合征的进一步界定。

Am J Med Genet A. 2014 Aug;164A(8):2109-13. doi: 10.1002/ajmg.a.36548. Epub 2014 Apr 8.

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.MYRF 部分单体型不足相关表型谱的综述

Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8.

A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.在患有异构和先天性心脏病的患者中发现的一个新型 ZIC3 基因突变。

Sci Rep. 2018 Aug 17;8(1):12386. doi: 10.1038/s41598-018-30204-3.

A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.伴有KAT6B基因10个碱基对回文重复序列的Ohdo综合征Say-Barber-Biesecker-Young-Simpson变异型：一种导致严重表型并合并生殖髌综合征的复发性突变。

Congenit Anom (Kyoto). 2017 May;57(3):86-88. doi: 10.1111/cga.12196.

De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome.KAT6B基因的新发突变导致非典型赛-巴伯-比塞克-杨-辛普森综合征或生殖器髌骨综合征。

Fetal Pediatr Pathol. 2017 Apr;36(2):130-138. doi: 10.1080/15513815.2017.1281364. Epub 2017 Feb 7.

引用本文的文献

Anomalous Left Coronary Artery from the Pulmonary Artery in Three Patients with MYRF-Associated Cardiac-Urogenital Syndrome.三名患有MYRF相关心脏-泌尿生殖系统综合征患者的起源于肺动脉的异常左冠状动脉。

Pediatr Cardiol. 2025 Jan 9. doi: 10.1007/s00246-024-03743-y.

CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease.基于 CRISPR 的基因敲除和碱基编辑技术确认了 MYRF 在心脏发育和先天性心脏病中的作用。

Dis Model Mech. 2023 Aug 1;16(8). doi: 10.1242/dmm.049811. Epub 2023 Aug 16.

Truncation mutations in MYRF underlie primary angle closure glaucoma.MYRF基因的截短突变是原发性闭角型青光眼的基础。

Hum Genet. 2023 Jan;142(1):103-123. doi: 10.1007/s00439-022-02487-0. Epub 2022 Sep 21.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验