Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R

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• 作者：Paldeep Singh Atwal ; Sophie Blease ; Alicia Braxton ; Julia Graves ; Weimin He ; Richard Person ; Leah Slattery ; Jonathan Adam Bernstein and Louanne Hudgins
• 关键词：FLNA ; keloid scar ; cardiac valvulopathy ; joint hypomobility ; G1576R
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：170
• 期：4
• 页码：891-895
• 全文大小：619K
• ISSN：1552-4833

文摘

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.