A case ofFLNAgene mutation with respiratory insufficiency and periventricular heterotopia

Abstract

Filamin A is an actin-binding protein and, in humans, is encoded by FLNA gene in the long arm of X chromosome. Filamin A plays a role in the formation of cytoskeleton by crosslinking actin filaments in cytoplasm. FLNA mutations affect cytoskeletal regulatory processes and cellular migrating abnormalities that result in periventricular heterotopia. A 5-month-old girl was hospitalized be cause of breathing difficulty and was diagnosed as having periventricular heterotopia with laryngomalacia, cricopharyngeal incoor dination, pulmonary hypertension, and chronic lung disease. A genetic test was performed to find the cause of periventricular het erotopia, and FLNA gene mutation (c.5998+1G>A) was confirmed for the first time in Korea. After discharge, she developed respira tory failure due to a viral infection at 8 months of her age. In spite of management with mechanical ventilation, she died of pneu mothorax and pulmonary hemorrhage. Herein, we report a case of FLNA gene mutation who presented with periventricular nodu lar heterotopia with respiratory insufficiency. (Allergy Asthma Respir Dis 2019;7:158-164)