Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

Journal of Medical Genetics

Volumn 39, Issue 8, 2002, Pages 589-593

  Halliday, D J ^a   Hutchinson, S ^b   Lonie, L ^c   Hurst, J A ^a   Firth, H ^d   Handford, P A ^b   Wordsworth, P ^c  

^a CHURCHILL HOSPITAL   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; FBN1 GENE; GENE; GENE MUTATION; HUMAN; MARFAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SYNDROME DELINEATION;

EID: 0036341187     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.39.8.589     Document Type: Article

References (40)

1. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
2. Marfan syndrome
3. Revised diagnostic criteria for the Marfan syndrome
4. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
5. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome
6. Revised genomic organization of FBN1 and significance for regulated gene expression
7. The human genome database
8. Marfan Database (third edition): New mutations and new routines for the software
9. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome
10. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions
11. Mutation screening of complete fibrillin-1 coding sequence: Report of five new mutations, including two in 8-cysteine domains
12. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
13. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons
14. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe Marfan syndrome
15. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
16. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders
17. Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome
18. Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome
19. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: Distinct effects on biochemical and clinical phenotypes
20. Four novel FBN1 mutations: Significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
21. Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene
22. Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome
23. Molecular analysis of eight mutations in FBN1
24. Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence
25. Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients
26. Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1
27. Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and 2 novel polymorphisms in the FBN1 gene
28. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
29. A novel mutation of the fibrillin gene causing ectopia lentis
30. Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: Genotype-phenotype correlation
31. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
32. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection
33. Novel approach to the molecular diagnosis of Marfan syndrome: Application to sporadic cases and in prenatal diagnosis
34. Life expectancy in the Marfan syndrome
35. Classic, atypically severe and neonatal Marfan syndrome: Twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40
36. Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome
37. A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome
38. Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of Italian families with Marfan syndrome
39. Two-dimensional echocardiographic aortic root dimensions in normal children and adults
40. Dural ectasia in the Marfan syndrome: MR and CT findings and criteria