Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infant

Autor:	Anil Batra, Naveen Parkash Gupta, Ratna Puri, Varun Meena
Rok vydání:	2020
Předmět:	medicine.medical_specialty Biopsy DNA Mutational Analysis Mutation Missense ATP-binding cassette transporter ABCA3 Severity of Illness Index 03 medical and health sciences Fatal Outcome 0302 clinical medicine Pulmonary surfactant Rare Disease 030225 pediatrics Internal medicine Exome Sequencing Intubation Intratracheal medicine Humans Missense mutation Lung Hyaline Respiratory Distress Syndrome Newborn Continuous Positive Airway Pressure biology Respiratory distress business.industry Homozygote Infant Newborn Infant Pulmonary Surfactants General Medicine Radiography Microscopy Electron Endocrinology 030228 respiratory system Term Infant Alveolar Epithelial Cells biology.protein Breathing ATP-Binding Cassette Transporters Female business Infant Premature
Zdroj:	BMJ Case Rep
ISSN:	1757-790X
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72b2b3a1d7e38246bb3cc561ae307c26 https://doi.org/10.1136/bcr-2020-235520 Zobrazit plný text záznamu