Related Experiment Video
Updated: May 10, 2025
Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
Published on: March 12, 2013
A Novel FLNA Gene Mutation Associated With Congenital Atrioventricular Valve Dysplasia
Xian Yang1, Xiaoyan Hao1, Hairui Sun1
1Cardiac Ultrasound Medical Center Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Abstract:
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.
More Related Videos
04:37Author Spotlight: Effect of Left Atrial Ligation on Avian Embryonic Hearts and HLHS Implications
Published on: June 16, 2023
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
02:18Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
01:17Heart Valves
The AV valves prevent the backflow of blood from the ventricles to the atria during ventricular contraction. These valves function with the assistance of the chordae tendineae and papillary muscles. When the ventricles are relaxed, the chordae tendineae are slack, allowing blood to flow from the atria into the...
01:39Mutations