Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia

Pediatric Pulmonology

Volumn 39, Issue 4, 2005, Pages 374-378

  Shinawi, Marwan ^a   Boileau, Catherine ^b   Brik, Riva ^c   Mandel, Hanna ^c   Bentur, Lea ^c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^c RAMBAM MEDICAL CENTER   (Israel)

Author keywords

Elastic fibers; Elastogenesis defects; Fibrillin 1; Neonatal marfan syndrome; Pulmonary bullous emphysema

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; DIURETIC AGENT; DNA; FIBRILLIN 1; TRANSFORMING GROWTH FACTOR BETA;

AIRWAY OBSTRUCTION; ARTICLE; ARTIFICIAL VENTILATION; BRONCHOMALACIA; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; DISEASE SEVERITY; ELASTIC FIBER; EMPHYSEMA; GENE MUTATION; HUMAN; LUNG DISEASE; MALE; MARFAN SYNDROME; NEWBORN; NEWBORN DISEASE; PRIORITY JOURNAL; PROGNOSIS; SYNDROME DELINEATION; THORAX RADIOGRAPHY; TRACHEOMALACIA;

DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; INTRONS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PULMONARY EMPHYSEMA;

EID: 15744389627     PISSN: 87556863     EISSN: None     Source Type: Journal    
DOI: 10.1002/ppul.20174     Document Type: Article

References (30)

1. Morse RP, Rockenmacher S, Pyeritz RE, Sanders SP, Bieber FR, Lin A, MacLeod P, Hall B, Graham JM Jr. Diagnosis and management of infantile Marfan syndrome. Pediatrics 1990;86: 888-895.
2. Gross DM, Robinson LK, Smith LT, Glass N, Rosenberg H, Duvic M. Severe perinatal Marfan syndrome. Pediatrics 1989;84:83-89.
3. Buntinx IM, Willems PJ, Spitaels SE, Van Reempst PJ, De Paepe AM, Dumon JE. Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. J Med Genet 1991;28:267-273.
4. Dietz HC. Marfan syndrome, www.genetests.org
5. Booms P, Cisler J, Mathews KR, Godfrey M, Tiecke F, Kaufmann UC, Vetter U, Hagemeier C, Robinson PN. Novel exon skipping mutation in the fibrillin-1 gene: two "hot spots" for the neonatal Marfan syndrome. Clin Genet 1999;55:110-117.
6. Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, Ramirez F, Sakai LY, Dietz HC. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003;33:407-411.
7. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
8. Axton RA, Hanson IM, Love J, Seawright A, Prosser J, van Heyningen V. Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations. MoI Cell Probes 1997;11:287-292.
9. Bolande RP, Tucker AS. Pulmonary emphysema and other cardiorespiratory lesions as part of the Marfan abiotrophy. Pediatrics 1964;33:356-366.
10. Wood JR, Bellamy D, Child AH, Citron KM. Pulmonary disease in patients with Marfan syndrome. Thorax 1984;39:780-784.
11. Rigante D, Segni G, Bush A. Persistent spontaneous pneumothorax in an adolescent with Marian's syndrome and pulmonary bullous dysplasia. Respiration 2001;68:621-624.
12. Wang M, Kishnani P, Decker-Phillips M, Kahler SG, Chen YT, Godfrey M. Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. J Med Genet 1996;33:760-763.
13. Jacobs AM, Toudjarska I, Racine A, Tsipouras P, Kilpatrick MW, Shanske A. A recurring FBN1 gene mutation in neonatal Marfan syndrome. Arch Pediatr Adolesc Med 2002;156:1081-1085.
14. Revencu N, Quenum G, Detaille T, Verellen G, De Paepe A, Verellen-Dumoulin C. Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature. Eur J Pediatr 2004;163:33-37.
15. Robinson PN, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 2000;37; 9-25.
16. Godfrey M, Raghunath M, Cisler J, Bevins CL, DePaepe A, Di Rocco M, Gregoritch J, Imaizumi K, Kaplan P, Kuroki Y, et al. Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome. Am J Pathol 1995;146:1414-1421.
17. Ramirez F, Pereira L. The fibrillins. Int J Biochem Cell Biol 1999; 31:255-259.
18. Kielty CM, Sherratt MJ, Shuttleworth CA. Elastic fibers. J Cell Sci 2002;115:2817-2828.
19. Collod-Beroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Beroud C, Boileau C. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat 2003; 22:199-208.
20. Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat 2002;20:153-161.
21. Liu W, Qian C, Comeau K, Brenn T, Furthmayr H, Francke U. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe Marfan syndrome. Hum Mol Genet 1996;5:1581-1587.
22. Wang M, Price C, Han J, Cisler J, Imaizumi K, Van Thienen MN, DePaepe A, Godfrey M. Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. Hum Mol Genet 1995;4:607-613.
23. Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hovels-Gurich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Eur J Hum Genet 2001;9:13-21.
24. Kaartinen V, Warburton D. Fibrillin controls TGF-beta activation. Nat Genet 2003;33:331-332.
25. Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet 2002;11:2113-2118.
26. Corbett E, Glaisyer H, Chan C, Madden B, Khaghani A, Yacoub M. Congenital cutis laxa with a dominant inheritance and early onset emphysema. Thorax 1994;49:836-837.
27. Tassabehji M, Metcalfe K, Hurst J, Ashcroft GS, Kielty C, Wilmot C, Donnai D, Read AP, Jones CJ. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet 1998;7:1021-1028.
28. Nakamura T, Lozano PR, Ikeda Y, Iwanaga Y, Hinek A, Minamisawa S, Cheng CF, Kobuke K, Dalton N, Takada Y, Tashiro K, Ross J Jr, Honjo T, Chien KR. Fibulin-5/DANCE is essential for elastogenesis in vivo. Nature 2002;415:171-175.
29. Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T. Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. Nat Genet 2004;36:178-182.
30. Mariani TJ, Sandefur S, Pierce RA. Elastin in lung development. Exp Lung Res 1997;23:131-145.