Novel fibrillin 1 mutation in a case of neonatal marfan syndrome: The increasing importance of early recognition

Congenital Heart Disease

Volumn 2, Issue 5, 2007, Pages 342-346

  Sutherell, Jamie ^a   Zarate, Yuri ^a   Tinkle, Bradley T ^a   Markham, Larry W ^a   Cripe, Linda H ^a   Hyland, James C ^b   Witte, David ^a   Hopkin, Robert J ^a   Hinton, Robert B ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b Connective Tissue Gene Tests ^*  (United States)

Author keywords

Genetic Screening; Losartan; Marfan Syndrome; Prenatal Diagnosis

Indexed keywords

FIBRILLIN 1;

APNEA; ARTICLE; CARDIOMEGALY; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONGENITAL MALFORMATION; EARLY DIAGNOSIS; GENETIC SCREENING; HEART FAILURE; HISTOPATHOLOGY; HUMAN; HYPOXIA; MALE; MARFAN SYNDROME; MISSENSE MUTATION; NEWBORN; PRIORITY JOURNAL; RESPIRATORY TRACT INTUBATION;

CARDIOVASCULAR DISEASES; CONTRACTURE; CYTOSINE; EARLY DIAGNOSIS; EXONS; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUSCULOSKELETAL ABNORMALITIES; MUTATION, MISSENSE; PRENATAL DIAGNOSIS; THYMINE;

EID: 34548768696     PISSN: 1747079X     EISSN: 17470803     Source Type: Journal    
DOI: 10.1111/j.1747-0803.2007.00123.x     Document Type: Article

References (17)

1. Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005;366:1965-1976.
2. Loeys B, De Backer J, Van Acker P, et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat. 2004;24:140-146.
3. Robinson PN, Arteaga-Solis E, Baldock C, et al. The molecular genetics of Marfan syndrome and related disorders. J Med Genet. 2006;43:769-787.
4. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996;62:417-426.
5. Morse RP, Rockenmacher S, Pyeritz RE, et al. Diagnosis and management of infantile marfan syndrome. Pediatrics. 1990;86:888-895.
6. 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.
7. Booms P, Cisler J, Mathews KR, et al. Novel exon skipping mutation in the fibrillin-1 gene: Two "hot spots" for the neonatal Marfan syndrome. Clin Genet. 1999;55:110-117.
8. Tiecke F, Katzke S, Booms P, et al. 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.
9. Kuehn BM. Drug shows promise for marfan syndrome. JAMA. 2006;295:1990.
10. Andelfinger G, Shirali GS, Raunikar RA, Atz AM. Functional pulmonary atresia in neonatal Marfan's syndrome: Successful treatment with inhaled nitric oxide. Pediatr Cardiol. 2001;22:525-526.
11. Roberts WC, Honig HS. The spectrum of cardiovascular disease in the Marfan syndrome: A clinico-morphologic study of 18 necropsy patients and comparison to 151 previously reported necropsy patients. Am Heart J. 1982;104:115-135.
12. Lopes KR, Delezoide AL, Baumann C, et al. Prenatal Marfan syndrome: report of one case and review of the literature. Prenat Diagn. 2006;26:696-699.
13. Derbent M, Gurakan B, Saygil A, Baltaci V, Balci S. Popliteal pterygium associated with neonatal Marfan syndrome: Case report. Clin Dysmorphol. 2001;10:209-213.
14. Tekin M, Cengiz FB, Ayberkin E, et al. Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. Am J Med Genet A. 2007;143:875-880.
15. Palz M, Tiecke F, Booms P, et al. Clustering of mutations associated with mild Marfan-like phenotypes in the 3′ region of FBN1 suggests a potential genotype-phenotype correlation. Am J Med Genet. 2000;91:212-221.
16. Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet. 2003;33:407-411.
17. Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006;312:117-121.