RT Journal Article
SR Electronic
T1 Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infant
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e235520
DO 10.1136/bcr-2020-235520
VO 13
IS 10
A1 Naveen Parkash Gupta
A1 Anil Batra
A1 Ratna Puri
A1 Varun Meena
YR 2020
UL http://casereports.bmj.com/content/13/10/e235520.abstract
AB The term baby presented with respiratory distress with X-ray pictures consistent as hyaline membrane disease (HMD). Baby was ventilated and treated with surfactant. Because of the persistence of high ventilation needs with X-ray pictures consistent with HMD with a transient response to surfactant every time, the possibility of an inherited disorder of surfactant metabolism was kept. Whole-exome sequencing revealed a novel homozygous missense mutation in the gene for ATP binding cassette transporter protein A3. The baby died after 100 days of ventilation.