Population and disease-based prevalence of the common mutations associated with surfactant deficiency

Pediatric Research

Volumn 63, Issue 6, 2008, Pages 645-649

  Garmany, Tami H ^a   Wambach, Jennifer A ^a   Heins, Hillary B ^a   Watkins Torry, Julie M ^a   Wegner, Daniel J ^a   Bennet, Kate ^a   An, Ping ^a   Land, Garland ^b   Saugstad, Ola D ^c   Henderson, Howard ^d   Nogee, Lawrence M ^e   Cole, F Sessions ^a   Hamvas, Aaron ^a,f  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES   (United States)

^c UNIVERSITY OF OSLO   (Norway)

^d UNIVERSITY OF CAPE TOWN   (South Africa)

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

^f ST LOUIS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A3; SURFACTANT PROTEIN B; SURFACTANT PROTEIN C; UNCLASSIFIED DRUG; ABCA3 PROTEIN, HUMAN; SFTPC PROTEIN, HUMAN;

ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DNA DETERMINATION; ENZYME ASSAY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC RISK; HAPLOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MORBIDITY; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; NORWAY; POPULATION BASED CASE CONTROL STUDY; PREVALENCE; PRIORITY JOURNAL; RESTRICTION MAPPING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH AFRICA; SOUTH KOREA; UNITED STATES; CASE CONTROL STUDY; CLINICAL TRIAL; GENETIC PREDISPOSITION; GENETICS; HEALTH SURVEY; KOREA; METABOLISM; MULTICENTER STUDY; MUTATION; RISK FACTOR;

ATP-BINDING CASSETTE TRANSPORTERS; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; KOREA; MALE; MISSOURI; MUTATION; NORWAY; POPULATION SURVEILLANCE; PULMONARY SURFACTANT-ASSOCIATED PROTEIN B; PULMONARY SURFACTANT-ASSOCIATED PROTEIN C; RESPIRATORY DISTRESS SYNDROME, NEWBORN; RISK FACTORS; SOUTH AFRICA;

EID: 45849151171     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e31816fdbeb     Document Type: Article

References (34)

1. Batenburg JJ 1992 Surfactant phospholipids: synthesis and storage. Am J Physiol 262:L367-L385
2. Weaver TE, Conkright JJ 2001 Function of surfactant proteins B and C. Annu Rev Physiol 63:555-578
3. Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, Nogee LM, Hamvas A 2006 Surfactant composition and function in patients with ABCA3 mutations. Pediatr Res 59:801-805
4. Cheong N, Madesh M, Gonzales LW, Zaho M, Yu K, Ballard PL, Shuman H 2006 Functional and trafficking defects in ABCA3 mutants associated with respiratory distress syndrome. J Biol Chem 281:9791-9800
5. Ban N, Matsumura Y, Sakai H, Takanezawa Y, Sasaki M, Arai H, Inagaki N 2007 ABCA3 as a lipid transporter in pulmonary surfactant biogenesis. J Biol Chem 282:9628-9634
6. Fitzgerald ML, Haley KJ, Welti R, Goss JL, Brown CE, Zhuang DZ, Bell SA, Lu N, Mckee M, Seed B, Freeman MW 2007 ABCA3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphati-dylglycerol. J Lipid Res 48:621-632
7. Hamvas A, Nogee LM, Mallory GB, Spray TL, Huddleston CB, August A, Dehner LP, deMello DE, Moxley M, Nelson R, Cole FS, Colten HR 1997 Lung transplantation for treatment of infants with surfactant protein B deficiency. J Pediatr 130:231-239
8. Nogee LM, Garnier G, Dietz HC, Singer L, Murphy AM, deMello DE, Colten HR 1994 A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J Clin Invest 93:1860-1863
9. Hamvas A 1997 Inherited surfactant protein-B deficiency. Adv Pediatr 44:369-388
10. Cole FS, Hamvas A, Rubinstein P, King E, Trusgnich M, Nogee LM, deMello DE, Colten HR 2000 Population-based estimates of surfactant protein B deficiency. Pediatrics 105:538-541
11. Nogee LM, Dunbar AE III, Wert SE, Askin F, Hamvas A, Whitsett JA 2001 A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med 344:573-579
12. Hamvas A, Nogee LM, White FV, Schuler P, Hackett BP, Huddleston CB, Men-deloff EN, Hsu FF, Wert SE, Gonzales LW, Beers MF, Ballard PL 2004 Progressive lung disease and surfactant dysfunction with a deletion of surfactant protein C gene. Am J Respir Cell Mol Biol 30:771-776
13. Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, Deutsch G, Nogee LM 2005 A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr 146:370-375
14. Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M 2004 ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 350:1296-1303
15. Brasch F, Schimanski S, Muhlfeld C, Barlage S, Langmann T, Aslanidis C, Boettcher A, Dada A, Schroten H, Mildenberger E, Prueter E, Ballmann M, Ochs M, Johnen G, Griese M, Schmitz G 2006 Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med 174:571-580
16. Bullard JE, Wert SE, Whitsett JA, Dean M, Nogee LM 2005 ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med 172:1026-1031
17. Hamvas A, Trusgnich M, Brice H, Baumgartner J, Hong Y, Nogee LM, Cole FS 2001 Population-based screening for rare mutations: high throughput DNA extraction and amplification from Guthrie cards. Pediatr Res 50:666-668
18. Stephens M, Smith NJ, Donnelly P 2001 A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989
19. Rosner B 1999 Fundamentals of Biostatistics. Duxbury Press, Pacific Grove, CA, pp 371-376
20. Tryka AF, Wert SE, Mazursky JE, Arrington RW, Nogee LM 2000 Absence of lamellar bodies with accumulation of dense bodies characterizes a novel form of congenital surfactant defect. Pediatr Dev Pathol 3:335-345
21. Clark JC, Iwamoto HS, Ikegami M, Jobe AH, Hull WM, Whitsett JA 1997 Decreased lung compliance and air trapping in heterozygous SP-B deficient mice. Am J Respir Cell Mol Biol 16:46-52
22. Tokieda K, Iwamoto HS, Bachurski C, Wert SE, Hull WM, Ikeda K, Whitsett JA 1999 Surfactant protein-B-deficient mice are susceptible to hyperoxic lung injury. Am J Respir Cell Mol Biol 21:463-472
23. Yusen RD, Cohen AH, Hamvas A 1999 Normal lung function in subjects heterozygous for surfactant protein B deficiency. Am J Respir Crit Care Med 159:411-414
24. Hamvas A, Wegner DJ, Carlson CS, Bergmann KR, Trusgnich MA, Fulton L, Kasai Y, An P, Mardis ER, Wilson RK, Cole FS 2007 Comprehensive genetic variant discovery in the surfactant protein B gene. Pediatr Res 62:170-175
25. Hamvas A 2006 Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation. Semin Perinatol 30:316-326
26. Somaschini M, Nogee LM, Sassi I, Danhaive O, Presi S, Boldrini R, Montrasio C, Ferrari M, Wert SE, Carrera P 2007 Unexplained neonatal respiratory distress due to congenital surfactant deficiency. J Pediatr 150:649-653
27. Floros J, Thomas NJ, Liu W, Papagaroufalis C, Xanthou M, Pereira S, Fan R, Guo X, Diangelo S, Pavlovic J 2006 Family-based association tests suggest linkage between surfactant protein B (SP-B) (and flanking region) and respiratory distress syndrome (RDS): SP-B haplotypes and alleles from SP-B-linked loci are risk factors for RDS. Pediatr Res 59:616-621
28. Haataja R, Ramet M, Marttila R, Hallman M 2000 Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome. Hum Mol Genet 9:2751-2760
29. Hamvas A, Wegner DJ, Trusgnich MA, Madden KK, Heins H, Liu Y, Rice T, Watkins-Torry J, Cole FS 2005 Genetic variant characterization in intron 4 of the surfactant protein B gene. Hum Mutat 26:494-495
30. Lahti M, Marttila R, Hallman M 2004 Surfactant protein C variation in the Finnish population - association with perinatal respiratory disease. Eur J Hum Genet 12:312-320
31. Matsumura Y, Ban N, Ueda K, Inagaki N 2006 Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J Biol Chem 281:34503-34514
32. Mulugeta S, Gray JM, Notarfrancesco KL, Gonzales LW, Koval M, Feinstein SI, Ballard PL, Fisher AB, Shuman H 2002 Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3. J Biol Chem 277:22147-22155
33. Stahlman MT, Besnard V, Wert SE, Weaver TE, Dingle S, Xu Y, von Zychlin K, Olson SJ, Whitsett JA 2007 Expression of ABCA3 in developing lung and other tissues. J Histochem Cytochem 55:71-83
34. Bullard JE, Nogee LM 2007 Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein-C gene (SFTPC) mutation. Pediatr Res 62:176-179