Genotype-phenotype correlations for infants and children with ABCA3 deficiency

American Journal of Respiratory and Critical Care Medicine

Volumn 189, Issue 12, 2014, Pages 1538-1543

  Wambach, Jennifer A ^a   Casey, Alicia M ^b   Fishman, Martha P ^b   Wegner, Daniel J ^a   Wert, Susan E ^c   Sessions Cole, F ^a   Hamvas, Aaron ^a,d   Nogee, Lawrence M ^e  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Childhood interstitial lung disease; Neonatal respiratory distress; Surfactant

Indexed keywords

ABCA3 GENE; ARTICLE; CHILD; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE INSERTION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; INTERSTITIAL LUNG DISEASE; LUNG TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; NEWBORN; NONSENSE MUTATION; PRIORITY JOURNAL; PROGNOSIS; RESPIRATORY FAILURE;

CHILDHOOD INTERSTITIAL LUNG DISEASE; NEONATAL RESPIRATORY DISTRESS; SURFACTANT;

ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LUNG DISEASES, INTERSTITIAL; LUNG TRANSPLANTATION; MALE; MUTATION; RESPIRATORY DISTRESS SYNDROME, NEWBORN; SEQUENCE ANALYSIS, DNA;

EID: 84902665593     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/rccm.201402-0342OC     Document Type: Article

References (33)

1. Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res 2001;11:1156-1166. (Pubitemid 32677289)
2. Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y, Morohoshi T, Ogawa J, Shioda S, Inagaki N. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett 2001;508:221-225. (Pubitemid 33079249)
3. Mulugeta S, Gray JM, Notarfrancesco KL, Gonzales LW, Koval M, Feinstein SI, Ballard PL, Fisher AB, Shuman H. Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3. J Biol Chem 2002;277: 22147-22155. (Pubitemid 34967179)
4. Cheong N, Zhang H, Madesh M, Zhao M, Yu K, Dodia C, Fisher AB, Savani RC, Shuman H. ABCA3 is critical for lamellar body biogenesis in vivo. J Biol Chem 2007;282:23811-23817. (Pubitemid 47328028)
5. Nagata K, Yamamoto A, Ban N, Tanaka AR, Matsuo M, Kioka N, Inagaki N, Ueda K. Human ABCA3, a product of a responsible gene for ABCA3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles. Biochem Biophys Res Commun 2004;324:262-268. (Pubitemid 39311488)
6. Ban N, Matsumura Y, Sakai H, Takanezawa Y, Sasaki M, Arai H, Inagaki N. ABCA3 as a lipid transporter in pulmonary surfactant biogenesis. J Biol Chem 2007;282:9628-9634. (Pubitemid 47104606)
7. Matsumura Y, Sakai H, Sasaki M, Ban N, Inagaki N. ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in a549 cells. FEBS Lett 2007;581:3139-3144. (Pubitemid 46977352)
8. Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 2004;350:1296-1303. (Pubitemid 38375364)
9. Hamvas A, Cole FS, Nogee LM. Genetic disorders of surfactant proteins. Neonatology 2007;91:311-317. (Pubitemid 46934217)
10. Tryka AF, Wert SE, Mazursky JE, Arrington RW, Nogee LM. Absence of lamellar bodies with accumulation of dense bodies characterizes a novel form of congenital surfactant defect. Pediatr Dev Pathol 2000;3:335-345. (Pubitemid 30421948)
11. Wert SE, Whitsett JA, Nogee LM. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol 2009;12:253-274.
12. Brasch F, Schimanski S, Muhlfeld C, Barlage S, Langmann T, Aslanidis C, Boettcher A, Dada A, Schroten H, Mildenberger E, et al. Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med 2006; 174:571-580. (Pubitemid 44330551)
13. Doan ML, Guillerman RP, Dishop MK, Nogee LM, Langston C, Mallory GB, Sockrider MM, Fan LL. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax 2008;63:366-373. (Pubitemid 351497952)
14. Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, Nogee LM, Hamvas A. Surfactant composition and function in patients with ABCA3 mutations. Pediatr Res 2006;59:801-805. (Pubitemid 44297632)
15. 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;172:1026-1031. (Pubitemid 41476541)
16. Matsumura Y, Ban N, Ueda K, Inagaki N. Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J Biol Chem 2006;281:34503-34514. (Pubitemid 46036658)
17. Weichert N, Kaltenborn E, Hector A, Woischnik M, Schams A, Holzinger A, Kern S, Griese M. Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells. Respir Res 2011;12:4.
18. Bullard JE, Nogee LM. Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. Pediatr Res 2007;62:176-179. (Pubitemid 47205717)
19. Casey AMH, Wambach JA, Fishman M, Cole FS, Hamvas A, Nogee L. Genotype-phenotype correlation for children with ABCA3 mutations [abstract]. Am J Respir Crit Care Med 2014;189:A5113.
20. Wambach JA, Yang P, Wegner DJ, An P, Hackett BP, Cole FS, Hamvas A. Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription. Pediatr Res 2010;68:216-220.
21. Nogee LM. Genetics of pediatric interstitial lung disease. Curr Opin Pediatr 2006;18:287-292. (Pubitemid 43832705)
22. Agrawal A, Hamvas A, Cole FS, Wambach JA, Wegner D, Coghill C, Harrison K, Nogee LM. An intronic ABCA3 mutation that is responsible for respiratory disease. Pediatr Res 2012;71:633-637.
23. Young LR, Nogee LM, Barnett B, Panos RJ, Colby TV, Deutsch GH. Usual interstitial pneumonia in an adolescent with ABCA3 mutations. Chest 2008;134:192-195. (Pubitemid 352008784)
24. Epaud R, Delestrain C, Louha M, Simon S, Fanen P, Tazi A. Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations. Eur Respir J 2014;43:638-641.
25. Thavagnanam S, Cutz E, Manson D, Nogee LM, Dell SD. Variable clinical outcome of ABCA3 deficiency in two siblings. Pediatr Pulmonol 2013;48:1035-1038.
26. Hallik M, Annilo T, Ilmoja ML. Different course of lung disease in two siblings with novel ABCA3 mutations. Eur J Pediatr (In press)
27. Kurland G, Deterding RR, Hagood JS, Young LR, Brody AS, Castile RG, Dell S, Fan LL, Hamvas A, Hilman BC, et al. American Thoracic Society Committee on Childhood Interstitial Lung Disease. An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med 2013;188:376-394.
28. Somaschini M, Nogee LM, Sassi I, Danhaive O, Presi S, Boldrini R, Montrasio C, Ferrari M, Wert SE, Carrera P. Unexplained neonatal respiratory distress due to congenital surfactant deficiency. J Pediatr 2007;150:649-653.
29. Turcu S, Ashton E, Jenkins L, Gupta A, Mok Q. Genetic testing in children with surfactant dysfunction. Arch Dis Child 2013;98:490-495.
30. Citti A, Peca D, Petrini S, Cutrera R, Biban P, Haass C, Boldrini R, Danhaive O. Ultrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review. Ultrastruct Pathol 2013;37:356-365.
31. Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, et al. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics 2012;130:e1575-1582.
32. Henderson LB, Melton K, Wert S, Couriel J, Bush A, Ashworth M, Nogee LM. Large ABCA3 and SFTPC deletions resulting in lung disease. Ann Am Thorac Soc 2013;10:602-607.
33. Carrera P, Ferrari M, Presi S, Ventura L, Vergani B, Lucchini V, Cogo PE, Carnielli VP, Somaschini M, Tagliabue P. Null ABCA3 in humans: large homozygous ABCA3 deletion, correlation to clinical-pathological findings. Pediatr Pulmonol 2014;49:E116-E120.