一种新的FLNA基因突变与先天性房室瓣膜发育不良相关。

IF 1.2 4区医学 Q3 ACOUSTICS

Journal of Clinical Ultrasound Pub Date : 2025-04-28 DOI:10.1002/jcu.23992

Xian Yang, Xiaoyan Hao, Hairui Sun, Tingting Man, Ye Zhang, Xiaowei Liu, Xiaoyan Gu, Yihua He

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引用次数: 0

摘要

FLNA （OMIM:300017）在胚胎心脏和血管系统发育过程中起重要作用。FLNA突变引起的x连锁黏液瘤性瓣膜营养不良的基因型-表型关系已有报道。我们报告了一个新的FLNA基因突变在两个男性胎儿的中国家庭，其遗传模式的先天性心脏病是一致的x连锁隐性遗传。男性患有先天性瓣膜发育不良的家庭应考虑FLNA突变。为了找到心脏异常的遗传原因，全外显子组测序是必要的。

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A Novel FLNA Gene Mutation Associated With Congenital Atrioventricular Valve Dysplasia.

FLNA (OMIM:300017) is important during the development of the embryonic heart and vasculature. The genotype-phenotype relationship of X-linked myxomatous valvular dystrophy caused by FLNA mutation has been reported. We report a new FLNA gene mutation in two male fetuses of a Chinese family whose transmission pattern of congenital heart disease was consistent with X-linked recessive inheritance. FLNA mutation should be considered as the cause in the family whose male members suffer from congenital valve dysplasia. Whole-exome sequencing is necessary for them to find the genetic cause of the heart anomalies.

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来源期刊

Journal of Clinical Ultrasound 医学-核医学

CiteScore

1.90

自引率

0.00%

发文量

248

审稿时长

6 months

期刊介绍： The Journal of Clinical Ultrasound (JCU) is an international journal dedicated to the worldwide dissemination of scientific information on diagnostic and therapeutic applications of medical sonography. The scope of the journal includes--but is not limited to--the following areas: sonography of the gastrointestinal tract, genitourinary tract, vascular system, nervous system, head and neck, chest, breast, musculoskeletal system, and other superficial structures; Doppler applications; obstetric and pediatric applications; and interventional sonography. Studies comparing sonography with other imaging modalities are encouraged, as are studies evaluating the economic impact of sonography. Also within the journal''s scope are innovations and improvements in instrumentation and examination techniques and the use of contrast agents. JCU publishes original research articles, case reports, pictorial essays, technical notes, and letters to the editor. The journal is also dedicated to being an educational resource for its readers, through the publication of review articles and various scientific contributions from members of the editorial board and other world-renowned experts in sonography.