Compound SFTPb 1549C→GAA (12 lins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency

Human Mutation

Volumn 14, Issue 6, 1999, Pages 502-509

  Tredano, Mohammed ^a   Van Elburg, Ruurd M ^b   Kaspers, Ageeth G ^b   Zimmermann, Luc J ^c   Houdayer, Claude ^a   Aymard, Pierre ^a   Hull, William M ^d   Whitsett, Jeffrey A ^d   Elion, Jacques ^e   Griese, Matthias ^f   Bahuau, Michel ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c SOPHIA CHILDREN S HOSPITAL   (Netherlands)

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

^e HÔPITAL ROBERT DEBRÉ   (France)

^f LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

Hereditary SP B deficiency; Protein processing; Pulmonary surfactant protein B (SP B); Pulmonary surfactant protein C (SP C); SFTPB

Indexed keywords

DEXAMETHASONE; DNA; LUNG SURFACTANT; MESSENGER RNA; SURFACTANT PROTEIN B;

ARTICLE; CASE REPORT; CONGENITAL LUNG DISEASE; DNA SEQUENCE; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; INFANT; LUNG BIOPSY; LUNG FUNCTION; LUNG LAVAGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

BASE SEQUENCE; BRONCHOALVEOLAR LAVAGE FLUID; DNA PRIMERS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PHENOTYPE; PROTEOLIPIDS; PULMONARY SURFACTANTS; RESPIRATORY DISTRESS SYNDROME, NEWBORN; SEQUENCE DELETION;

EID: 0032787005     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199912)14:6<502::AID-HUMU9>3.0.CO;2-C     Document Type: Article

References (35)

1. Antonorakis SE, the Nomenclature Working Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1-3.
2. Ballard PL, Nogee LM, Beers MF, Ballard RA, Planer BC, Polk L, deMello DE, Moxley MA, Longmore WJ. 1995. Partial deficiency of surfactant protein B in an infant with chronic lung disease. Pediatrics 96:1046-1052.
3. Bohinski RJ, Huffman JA, Whitsett JA, Lattier DL. 1993. Cisactive elements controlling lung cell-specific expression of human pulmonary surfactant protein B gene. J Biol Chem 268:11160-11166.
4. Bohinski RJ, Di Lauro R, Whitsett JA. 1994. The lung-specific surfactant protein B gene promoter is a target for thyroid transcription factor 1 and hepatocyte nuclear factor 3, indicating common factors for organ-specific gene expression along the foregut axis. Mol Cell Biol 14:5671-5681.
5. Botas C, Poulain F, Akiyama J, Brown C, Allen L, Goerke J, Clements J, Carlson E, Gillespie AM, Epstein C, Hawgood S. 1998. Altered surfactant homeostasis and alveolar type II cell morphology in mice lacking surfactant protein D. Proc Natl Acad Sci USA 95:11869-11874.
6. Clark JC, Wert SE, Bachurski CJ, Stahlman MT, Stripp BR, Weaver TE, Whitsett JA. 1995. Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice. Proc Natl Acad Sci USA 92:7794-7798.
7. Clark JC, Weaver TE, 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.
8. deMello DE, Nogee L, Heyman S, Krous HF, Hussain M, Merritt TA, Hsueh W, Haas JE, Heidelberger K, Schumacher R, Colten HR. 1994. Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency. J Pediatr 125:43-50.
9. Dirksen U, Nishinakamura R, Groneck P, Hattenhorst U, Nogee L, Murray R, Burdach S. 1997. Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common β chain expression. J Clin Invest 100:2211-2217.
10. Dranoff G, Crawford AD, Sadelain M, Ream B, Rashid A, Bronson RT, Dickersin GR, Bachurski CJ, Mark EL, Whitsett JA, Mulligan RC. 1994. Involvement of granulocyte-macrophage colony-stimulating factor in pulmonary homeostasis. Science 264:713-715.
11. Fuente AA (de la), Voorhout WF, deMello DE. 1997. Congenital alveolar proteinosis in the Netherlands: a report of five cases with immunohistochemical and genetic studies on surfactant apoproteins. Pediatr Pathol Lab Med 17:221-231.
12. Griese M, Birrer P, Demirsoy A. 1997. Pulmonary surfactant in cystic fibrosis. Eur Respir J 10:1983-1988.
13. Hamvas A, Cole FS, deMello DE, Moxley M, Whitsett JA, Colten HR, Nogee LM. 1994. Surfactant protein B deficiency: antenatal diagnosis and prospective treatment with surfactant replacement. J Pediatr 125:356-361.
14. Ikegami M, Korfhagen TR, Bruno MD, Whitsett JA, Jobe AH. 1997. Surfactant metabolism in surfactant protein A-deficient mice. Am J Physiol 272:L479-L485.
15. Ikegami M, Jobe AH. 1998. Surfactant protein metabolism in vivo. Biochim Biophys Acta 1408:218-225.
16. Jobe AH, Ikegami M. 1993. Surfactant metabolism. Clin Perinatol 20:683-696.
17. Klein JM, Thompson MW, Snyder JM, George TN, Whitsett JA, Bell EF, McCray PB, Nogee LM. 1998. Transient surfactant protein B deficiency in a term infant with severe respiratory failure. J Pediatr 132:244-248.
18. Korfhagen TR, Bruno MD, Ross GF, Huelsman KM, Ikegami M, Jobe AH, Wert SE, Stripp BR, Morris RE, Glasser SW, Bachurski CJ, Iwamoto HS, Whitsett JA. 1996. Altered surfactant function and structure in SP-A gene targeted mice. Proc Natl Acad Sci USA 93:9594-9599.
19. Korfhagen TR, Sheftelyevich V, Burhans MS, Bruno MD, Ross GF, Wert SE, Stahlman MT, Jobe AH, Ikegami M, Whitsett JA, Fisher JH. 1998. Surfactant protein-D regulates surfactant phospholipid homeostasis in vivo. J Biol Chem 273:28438-28443.
20. Lin Z, deMello DE, Wallot M, Floros J. 1998. An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for mutation hotspot in exon 4. Mol Genet Metab 64:25-35.
21. IL3 receptor-deficient mice are normal. Immunity 2:211-222.
22. Nogee LM. 1997. Surfactant protein-B deficiency. Chest 111:129S-135S.
23. 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.
24. Nogee LM, Jacobstein D, Dietz HC. 1995. Allelic heterogeneity in surfactant protein B (SP-B) deficiency. Pediatr Res 37:344A.
25. Phelps DS, Floros J. 1991. Localization of pulmonary surfactant proteins using immunohistochemistry and tissue in situ hybridization. Exp Lung Res 17:985-995.
26. Pilot-Matias TJ, Kister SE, Fox JL, Kropp K, Glasser SW, Whitsett JA. 1989. Structure and organization of the gene encoding human pulmonary surfactant proteolipid SP-B. DNA 8:75-86.
27. Pryhuber GS, Hull WM, Fink I, McMahan MJ, Whitsett JA. 1991. Ontogeny of surfactant proteins A and B in human amniotic fluid as indices of fetal lung maturity. Pediatr Res 30:597-605.
28. Robbe L, Drinkwater CC, Metcalf D, Li R, Köntgen F, Nicola NA, Begley CG. 1995. Hematopoietic and lung abnormalities in mice with a null mutation of the common β subunit of the receptors for granulocyte-macrophage colony-stimulating factor and interleukins 3 and 5. Proc Natl Acad Sci USA 92:9565-9569.
29. Sleight E, Coombs RC, Gibson AT, Primhak RA. 1997. Neonatal respiratory distress in near-term infants - consider surfactant protein B deficiency. Acta Pædiatr 86:428-430.
30. Stanley E, Lieschke GJ, Grail D, Metcalf D, Hodgson G, Gall JAM, Maher DW, Cebon J, Sinickas V, Dunn AR. 1994. Granulocyte/macrophage colony-stimulating factor-deficient mice show no major perturbation of hematopoiesis but develop a characteristic pulmonary pathology. Proc Natl Acad Sci USA 91:5592-5596.
31. Stuhrmann M, Bohnhorst B, Peters U, Bohle RM, Poets CF, Schmidtke J. 1998. Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency). Prenat Diagn 18:953-955.
32. Vamvakopoulos NC, Modi WS, Floros J. 1995. Mapping the human pulmonary surfactant-associated protein B gene, SFTP3, to chromosome 2p12→p11.2. Cytogeret Cell Genet 68:8-10.
33. Voorhout WF, Veenendaal T, Haagsman HP, Weaver TE, Whitsett JA, van Golde LM, Geuze HJ. 1992. Intracellular processing of pulmonary surfactant protein B in an endosomal/lysosomal compartment. Am J Physiol 263:L479-L486.
34. Vorbroker DK, Profitt SA, Nogee LM, Whitsett JA. 1995. Aberrant processing of surfactant protein C in hereditary SP-B deficiency. Am J Physiol 268:L647-L656.
35. 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.