Surfactant protein B defiency caused by a novel mutation involving multiple exons of the SP-B gene

European Journal of Medical Research

Volumn 13, Issue 6, 2008, Pages 281-286

  Schuerman, F A B A ^a   Griese, M ^b   Gille, J P ^c   Brasch, F ^d   Noorduyn, L A ^a   van Kaam, A H ^a  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

Gene; Multi exon deletion; SFTPB; Surfactant methabolism; Surfactant protein B deficieny

Indexed keywords

ANTIBIOTIC AGENT; INOTROPIC AGENT; PORACTANT; SURFACTANT PROTEIN B;

ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CYANOSIS; DNA DETERMINATION; ELECTRON MICROSCOPY; EXON; FEMALE; GENE DELETION; GENE MUTATION; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOTENSION; IMMUNOHISTOCHEMISTRY; LUNG BIOPSY; LUNG PARENCHYMA; NEWBORN; NEWBORN INTENSIVE CARE; POSITIVE END EXPIRATORY PRESSURE; PROTEIN ANALYSIS; PROTEIN DEFICIENCY; RESPIRATORY FAILURE; SURFACTANT PROTEIN B DEFICIENCY; THORAX RADIOGRAPHY; TRACHEAL ASPIRATION PROCEDURE;

BIOPSY; DNA; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MODELS, BIOLOGICAL; MUTATION; PROTEIN PRECURSORS; PROTEOLIPIDS; SEQUENCE ANALYSIS, DNA; SURFACE-ACTIVE AGENTS; TRACHEA;

EID: 47349124766     PISSN: 09492321     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. Clark HW, Reid KB, Sim RB: Collectins and innate immunity in the lung. Microbes Infect 2000;2:273-278.
2. Whitsett JA, Hull WM, Ohning B, Ross G, Weaver TE: Immunologic identification of a pulmonary surfactant-associated protein of molecular weight = 6000 daltons. Pediatr Res 1986;20:744-749.
3. Clark JC, Weaver TE, Iwamoto HS, Ikegami M, Jobe AH, Hull WM, Whitsett JA: Decreased lung compliance and air trapping in heterozygous SP-B-deficient mice. Am J Respir Cell Mol Biol 1997;16:46-52.
4. Nogee LM, Garnier G, Dietz HC, Singer L, Murphy AM, deMello DE, Colten HR: A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J Clin Invest 1994;93:1860-1863.
5. Nogee LM: Alterations in SP-B and SP-C expression in neonatal lung disease. Annu Rev Physiol 2004;66:601-623.
6. Cole FS, Hamvas A, Rubinstein P, King E, Trusgnich M, Nogee LM, deMello DE, Colten HR: Population-based estimates of surfactant protein B deficiency. Pediatrics 2000;105:538-541.
7. Farrell PM, Avery ME: Hyaline membrane disease. Am Rev Respir Dis 1975;111:657-688
8. Hamvas A, Nogee LM, Mallory GB, Jr., Spray TL, Huddleston CB, August A, Dehner LP, deMello DE, Moxley M, Nelson R, Cole FS, Colten HR: Lung transplantation for treatment of infants with surfactant protein B deficiency. J Pediatr 1997;130:231-239
9. Lin Z, deMello DE, Batanian JR, Khammash HM, Diangelo S, Luo J, Floros J: Aberrant SP-B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP). Clin Genet 2000;57:359-369.
10. Nogee LM, Wert SE, Proffit SA, Hull WM, Whitsett JA: Alle]ic heterogeneity in hereditary surfactant protein B (SP-B) deficiency. Am J Respir Crit Care Med 2000;161: 973-981.
11. Brasch F, Birzele J, Ochs M, Guttentag SH, Schoch OD, Boehler A, Beers MF, Muller KM, Hawgood S, Johnen G: Surfactant proteins in pulmonary alveolar proteinosis in adults. Eur Respir J 2004;24:426-435.
12. Johnson AL, Braidotti P, Pietra GG, Russo SJ, Kabore A, Wang WJ, Beers MF: Post-translational processing of surfactant protein-C proprotein: targeting motifs in the NH(2)-terminal flanking domain are cleaved in late compartments. Am J Respir Cell Mol Biol 2001;24:253-263.
13. Griese M, Schumacher S, Tredano M, Steinecker M, Braun A, Guttentag S, Beers MF, Bahuau M: Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease. Respir Res 2005;6:80.
14. Tredano M, van Elburg RM, Kaspers AG, Zimmermann U, Houdayer C, Aymard P, Hull WM, Whitsett JA, Elion J, Griese M, Bahuau M: Compound SFTPB 1549C - >GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency. Hum Mutat 1999;14:502-509.
15. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
16. Ferec C, Casals T, Chuzhanova N, Macek M, Jr., Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguenes O, Cooper DN, Audrezet MP, Chen JM: Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet 2006;14:567-576.
17. Hawgood S, Clements JA: Pulmonary surfactant and its apoproteins. J Clin Invest 1990;86:1-6.
18. Schumacher RE, Marrogi AJ, Heidelberger KP: Pulmonary alveolar proteinosis in a newborn. Pediatr Pulmonol 1989;7:178-182.
19. Guttentag SH, Beers MF, Bieler BM, Ballard PL: Surfactant protein B processing in human fetal lung. Am J Physiol 1998;275:L559-L566.
20. Lin S, Phillips KS, Wilder MR, Weaver TE: Structural requirements for intracellular transport of pulmonary surfactant protein B (SP-B). Biochim Biophys Acta 1996; 1312:177-185.
21. Lin S, Akinbi HT, Breslin JS, Weaver TE: Structural requirements for targeting of surfactant protein B (SP-B) to secretory granules in vitro and in vivo. J Biol Chem 1996; 271:19689-19695.
22. 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: Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med 2006; 174:571-580.
23. Wegner DJ, Hertzberg T, Heins HB, Elmberger G, Mac-Coss MJ, Carlson CS, Nogee LM, Cole FS, Hamvas A: A major deletion in the surfactant protein-B gene causing lethal respiratory distress. Acta Paediatr 2007;96:516-520.