Key result
Novel FLNA mutation linked to congenital atrioventricular valve dysplasia in male fetuses.
Why the study?
The genotype-phenotype relationship of X-linked myxomatous valvular dystrophy caused by FLNA mutation has been reported, but new mutations and their clinical implications require further characterization.
Case Report (n=2)
A novel FLNA gene mutation was identified as the cause of X-linked recessive congenital atrioventricular valve dysplasia, highlighting the utility of whole-exome sequencing for genetic diagnosis.
Answers are grounded in this paper and cite their sources.
Supports FLNA screening in familial X-linked atrioventricular valve dysplasia; leaves open broader exome sequencing utility pending validation.
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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Hao et al. (2025) conducted a case report in Congenital atrioventricular valve dysplasia (n=2). FLNA gene mutation was evaluated on Identification of genetic mutation. A novel FLNA gene mutation was identified in two male fetuses from a Chinese family with congenital atrioventricular valve dysplasia, consistent with X-linked recessive inheritance.
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