ABCMdb

PMID: 22707629

Parappil H, Al Baridi A, Ur Rahman S, Kitchi MH, Ruef P, Griese M, Lohse P, Aslanidis C, Schmitz G, Koch L, Poeschl J
Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate.
BMJ Case Rep. 2011 Mar 3;2011. pii: bcr1020103427. doi: 10.1136/bcr.10.2010.3427., [PubMed]

Sentences

No. Mutations Sentence Comment

20 ABCA3 p.Trp308Arg ABCA3 p.Trp308Arg Bronchoalveolar lavage New disease Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate Hussain Parappil,1,2 Ahmad Al Baridi,1 Sajjad ur Rahman,1,2 Mahmood H Kitchi,3 P Ruef,4 M Griese,5 P Lohse,6 C Aslanidis,7 G Schmitz,7 L Koch,4 J Poeschl4 1Department of Neonatology, Women`s Hospital, Hamad Medical Corporation, Doha, State of Qatar; 2Department of Pediatrics, Weill Cornell Medical College, Doha, State of Qatar; 3Pediatric Intensive Care Unit, Hamad Medical Corporation, Doha, State of Qatar; 4Department of Neonatology, University Children`s Hospital of Heidelberg, Heidelberg, Germany; 5Dr von Haunersches Kinderspital, University of Munich, Munich, Germany; 6Department of Clinical Chemistry - Großhadern, University of Munich, Munich, Germany; 7Department of Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany Correspondence to Dr Sajjad ur Rahman, Srahman4@hmc.org.qa Summary The authors report, for the first time in the literature, a case of respiratory distress syndrome in a term baby due to homozygosity for a p.Trp308Arg/W308R substitution in the ATP-binding cassette transporter 3. Login to comment 27 ABCA3 p.Trp308Arg In order to rule out an inherited disorder of the pulmonary surfactant system, a sequence analysis of the SFTPB, SFTPC, CSF2RA and ABCA3 genes was performed, which revealed that the patient was a homozygous carrier of the loss-of-function mutation p.Trp308Arg (c.922T>C) encoded by exon 9 of the ABCA3 gene. Login to comment 78 ABCA3 p.Trp308Arg In our case, both parents were heterozygous carriers of the ABCA3 p.Trp308Arg substitution. Login to comment