Lung disease associated with filamin A gene mutation: a case report.
BACKGROUND
Mutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy. FLNA mutations were recently found to be associated with lung disease. In this study, we report a novel FLNA gene associated with significant lung disease and unique angiogenesis.


METHODS
Here, we describe a 1-year-old Saudi female child with respiratory distress at birth. The child then had recurrent lower respiratory tract infections, bilateral lung emphysema with basal atelectasis, bronchospasm, pulmonary artery hypertension, and oxygen and mechanical ventilation dependency. Molecular testing showed a new pathogenic variant of one copy of c.3153dupC in exon 21 in the FLNA gene.


CONCLUSIONS
Our data support previous reports in the literature that associate FLNA gene mutation and lung disease.
King Fahad Medical City, P.O. Box 59046, Riyadh, 11525, Kingdom of Saudi Arabia.
Safa
S
Eltahir
King Fahad Medical City, P.O. Box 59046, Riyadh, 11525, Kingdom of Saudi Arabia.
Khalid S
KS
Ahmad
King Fahad Medical City, P.O. Box 59046, Riyadh, 11525, Kingdom of Saudi Arabia. malbalawi@hotmail.com.
Mohammed M
MM
Al-Balawi
King Fahad Medical City, P.O. Box 59046, Riyadh, 11525, Kingdom of Saudi Arabia.
Hussien
H
Bukhamsien
King Fahad Medical City, P.O. Box 59046, Riyadh, 11525, Kingdom of Saudi Arabia.
Khalid
K
Al-Mobaireek
King Fahad Medical City, P.O. Box 59046, Riyadh, 11525, Kingdom of Saudi Arabia.
Wadha
W
Alotaibi
King Fahad Medical City, P.O. Box 59046, Riyadh, 11525, Kingdom of Saudi Arabia.
Abdullah
A
Al-Shamrani
D005260:Female; D064448:Filamins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008168:Lung / Q000098:blood supply; D008171:Lung Diseases / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009389:Neovascularization, Pathologic / Q000235:genetics
D064448:Filamins
Angiogenesis; FLNA; Lung disease; Pediatrics