A case of FLNA gene mutation with respiratory insufficiency and periventricular heterotopia
Allergy, Asthma & Respiratory Disease
; : 158-164, 2019.
Article
de Ko
| WPRIM
| ID: wpr-762189
Bibliothèque responsable:
WPRO
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 because of breathing difficulty and was diagnosed as having periventricular heterotopia with laryngomalacia, cricopharyngeal incoordination, pulmonary hypertension, and chronic lung disease. A genetic test was performed to find the cause of periventricular heterotopia, and FLNA gene mutation (c.5998+1G>A) was confirmed for the first time in Korea. After discharge, she developed respiratory failure due to a viral infection at 8 months of her age. In spite of management with mechanical ventilation, she died of pneumothorax and pulmonary hemorrhage. Herein, we report a case of FLNA gene mutation who presented with periventricular nodular heterotopia with respiratory insufficiency.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Bras
/
Pneumothorax
/
Respiration
/
Ventilation artificielle
/
Insuffisance respiratoire
/
Ataxie
/
Chromosome X
/
Cytosquelette
/
Cytosquelette d'actine
/
Cytoplasme
Limites du sujet:
Female
/
Humans
/
Infant
Pays comme sujet:
Asia
langue:
Ko
Texte intégral:
Allergy, Asthma & Respiratory Disease
Année:
2019
Type:
Article