TY - JOUR T1 - Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infant JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2020-235520 VL - 13 IS - 10 SP - e235520 AU - Naveen Parkash Gupta AU - Anil Batra AU - Ratna Puri AU - Varun Meena Y1 - 2020/10/01 UR - http://casereports.bmj.com/content/13/10/e235520.abstract N2 - 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. ER -