ABCA3 p.Asn1076Lys
| Predicted by SNAP2: | A: D (59%), C: D (59%), D: N (61%), E: N (57%), F: D (66%), G: N (57%), H: N (61%), I: D (63%), K: N (66%), L: D (66%), M: D (80%), P: D (59%), Q: N (57%), R: N (61%), S: N (72%), T: N (66%), V: D (59%), W: D (85%), Y: D (66%), |
| 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, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] ABCA3 mutations associated with pediatric intersti... Am J Respir Crit Care Med. 2005 Oct 15;172(8):1026-31. Epub 2005 Jun 23. Bullard JE, Wert SE, Whitsett JA, Dean M, Nogee LM
ABCA3 mutations associated with pediatric interstitial lung disease.
Am J Respir Crit Care Med. 2005 Oct 15;172(8):1026-31. Epub 2005 Jun 23., [PMID:15976379]
Abstract [show]
RATIONALE: ABCA3 is a member of the ATP-binding cassette family of proteins that mediate the translocation of a wide variety of substrates, including lipids, across cellular membranes. Mutations in the gene encoding ABCA3 were recently identified in full-term neonates with fatal surfactant deficiency. OBJECTIVE: To test the hypothesis that ABCA3 mutations are not always associated with fatal neonatal lung disease but are a cause of pediatric interstitial lung disease. METHODS: DNA samples were obtained from 195 children with chronic lung disease of unknown etiology. The 30 coding exons of the ABCA3 gene were sequenced in four unrelated children with a referring diagnosis of desquamative interstitial pneumonitis and who were older than 10 years at the time of enrollment. RESULTS: Three of four patients (ages 16, 23, and 11 years) with desquamative interstitial pneumonitis had ABCA3 mutations identified on both alleles. All three had the same missense mutation (E292V) and a second unique mutation. The E292V mutation was not found on 200 control alleles from adults without lung disease, but seven additional patients of the remaining study patients had the E292V mutation on one allele. Immunohistochemical analysis of surfactant protein expression in three patients revealed a specific staining pattern for surfactant protein-B, which was the same pattern observed in several infants with fatal lung disease due to ABCA3 mutations. CONCLUSION: ABCA3 mutations cause some types of interstitial lung disease in pediatric patients.
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No. Sentence Comment
87 The E292V mutation was not found on 200 control alleles, indicating that it is TABLE 1. CHARACTERISTICS OF OLDER CHILDREN WITH CHRONIC LUNG DISEASE Patient 1 Patient 2 Patient 3 Patient 4 Race White White White White Age of symptoms Birth Ͻ 1 yr Ͻ 1 yr Birth Sex Female Female Male Male Lung biopsy DIP DIP DIP DIP Age at enrollment 23 yr 14 yr 10 yr 11 yr Current age 32 yr 16 yr 12 yr 11 yr Family history No Yes No No Outcome Lung transplant Alive Alive Alive ABCA3 mutations E292V/N1076K E292V/c3704-1 GϾT E292V/c1742-9 GϾA None Maternal allele NA c3704-1 GϾT E292V NA Paternal allele NA NA c1742-9 GϾA NA Definition of abbreviations: DIP ϭ desquamative interstitial pneumonitis; NA ϭ not available.
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ABCA3 p.Asn1076Lys 15976379:87:499
status: NEW105 In addition to the E292V mutation, five additional missense variants (N1076K, G1302E, P1301L, T1114M, E690K) and three splice junction site mutations (c3704-1 GϾT, c1742-9 GϾA, c1612-2 AϾG) that would likely alter RNA splicing were identified.
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ABCA3 p.Asn1076Lys 15976379:105:70
status: NEW