Key result
A novel hemizygous c.4726G>A (p.G1576R) mutation in FLNA was identified as the cause of a novel X-linked syndrome featuring cardiac valvulopathy, keloid scarring, and reduced joint mobility.
Case Report
Identifies a novel genetic syndrome linking cardiac valvulopathy, keloid scarring, and reduced joint mobility to a specific FLNA mutation (p.G1576R).
Hypothesis-generating for FLNA-related valvulopathy with keloids; extends mutation spectrum but needs validation.
Filamin A (FLNA) is known to be involved in intracellular actin binding, cell migration, scaffolding, and signaling. We report a novel X-linked syndrome characterized by cardiac valvular disease, keloid scarring and reduced joint mobility in male second cousins due to a previously unreported mutation in FLNA. Whole exome sequencing was performed using standard methods and segregation analysis was performed in affected and non-affected family members. A novel hemizygous c.4726G>A (p.G1576R) mutation in FLNA was detected. Segregation analysis performed on multiple maternal family members showed c.4726G>A (p.G1576R) segregated with disease in an X-linked inheritance pattern. The findings in these cases are distinct from previously described FLNA related disorders by virtue of decreased joint mobility and spontaneous keloid scarring. They occur in association with a novel mutation and represent a novel genetic syndrome.
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Atwal et al. (2015) conducted a case report in Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility. FLNA c.4726G>A (p.G1576R) mutation was evaluated on Identification of genetic mutation and segregation with disease. A novel hemizygous c.4726G>A (p.G1576R) mutation in FLNA was identified as the cause of a novel X-linked syndrome featuring cardiac valvulopathy, keloid scarring, and reduced joint mobility.
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