ABCMdb

ABCA3 p.Trp308Arg

Predicted by SNAP2:	A: D (85%), C: D (71%), D: D (85%), E: D (75%), F: D (63%), G: D (85%), H: D (66%), I: D (71%), K: D (80%), L: D (75%), M: D (75%), N: D (85%), P: D (91%), Q: D (80%), R: D (80%), S: D (85%), T: D (75%), V: D (75%), Y: D (59%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, Y: N,

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[hide] Respiratory distress syndrome due to a novel homoz... BMJ Case Rep. 2011 Mar 3;2011. pii: bcr1020103427. doi: 10.1136/bcr.10.2010.3427. 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., [PMID:22707629]

Abstract [show]
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. The sequence was confirmed by genetic analysis of the baby and both parents. Management and long-term outcome of a patient carrying this novel genetic defect have not been reported in the literature before. Currently, lung transplant appears to be the only long-term survival option available, for which, our patient is being evaluated.

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No. Sentence Comment
20 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 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 In our case, both parents were heterozygous carriers of the ABCA3 p.Trp308Arg substitution. Login to comment

[hide] A large kindred of pulmonary fibrosis associated w... Respir Res. 2014 Apr 15;15:43. doi: 10.1186/1465-9921-15-43. Campo I, Zorzetto M, Mariani F, Kadija Z, Morbini P, Dore R, Kaltenborn E, Frixel S, Zarbock R, Liebisch G, Hegermann J, Wrede C, Griese M, Luisetti M
A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.
Respir Res. 2014 Apr 15;15:43. doi: 10.1186/1465-9921-15-43., [PMID:24730976]

Abstract [show]
BACKGROUND: Interstitial lung disease occurring in children is a condition characterized by high frequency of cases due to genetic aberrations of pulmonary surfactant homeostasis, that are also believed to be responsible of a fraction of familial pulmonary fibrosis. To our knowledge, ABCA3 gene was not previously reported as causative agent of fibrosis affecting both children and adults in the same kindred. METHODS: We investigated a large kindred in which two members, a girl whose interstitial lung disease was first recognized at age of 13, and an adult, showed a diffuse pulmonary fibrosis with marked differences in terms of morphology and imaging. An additional, asymptomatic family member was detected by genetic analysis. Surfactant abnormalities were investigated at biochemical, and genetic level, as well as by cell transfection experiments. RESULTS: Bronchoalveolar lavage fluid analysis of the patients revealed absence of surfactant protein C, whereas the gene sequence was normal. By contrast, sequence of the ABCA3 gene showed a novel homozygous G > A transition at nucleotide 2891, localized within exon 21, resulting in a glycine to aspartic acid change at codon 964. Interestingly, the lung specimens from the girl displayed a morphologic usual interstitial pneumonitis-like pattern, whereas the specimens from one of the two adult patients showed rather a non specific interstitial pneumonitis-like pattern. CONCLUSIONS: We have detected a large kindred with a novel ABCA3 mutation likely causing interstitial lung fibrosis affecting either young and adult family members. We suggest that ABCA3 gene should be considered in genetic testing in the occurrence of familial pulmonary fibrosis.

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239 Sequence analysis revealed that the patient was a homozygous carrier of the loss-of-function mutation p.Trp308Arg (c.922 T > C) at exon 9 of the ABCA3 gene, without any additional abnormalities in SFTPB, SFTPC and CSF2RA genes. Login to comment