ABCA3 p.Trp12*
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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]
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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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82 A similar pattern of robust staining for proSP-B with reduced staining for mature SP-B, which was recovered after antigen retrieval, was observed in Patients 3 and 8 (not shown), as well as in lung tissue from a full-term neonate who was a compound heterozygote for two ABCA3 mutations (W12X/ 3997delAG; Figure 2).
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ABCA3 p.Trp12* 15976379:82:287
status: NEW130 A similar pattern is seen in lung tissue from a full-term neonate with fatal lung disease who was a compound heterozygote for ABCA3 null mutations (W12X/3997delAG; middle column: B, E, H, K, N; original magnification, ϫ20).
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ABCA3 p.Trp12* 15976379:130:148
status: NEW