Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene

Human Mutation

Volumn 19, Issue 4, 2002, Pages 443-456

  Mátyás, Gábor ^a   De Paepe, Anne ^b   Halliday, Dorothy ^c   Boileau, Catherine ^d   Pals, Gerard ^e   Steinmann, Beat ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d INSERM   (France)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Clinical molecular genetics; DHPLC; Extracellular matrix; FBN1; Fibrillin 1; Marfan syndrome; MFS; Molecular diagnosis; Mutation screening; Polymorphism

Indexed keywords

ACCURACY; ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXTRACELLULAR MATRIX; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; MARFAN SYNDROME; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; EXONS; FALSE POSITIVE REACTIONS; GENE FREQUENCY; GENETIC SCREENING; HUMANS; INTRONS; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; NUCLEIC ACID DENATURATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SENSITIVITY AND SPECIFICITY;

EID: 0036197411     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10054     Document Type: Article

References (52)

1. Base-base mismatches. Thermodynamics of double helix formation for dCA3XA3G + dCT3YT3G (X, Y = A,C,G,T)
2. Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome
3. Revised genomic organization of FBN1 and significance for regulated gene expression
4. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25
5. Marfan database (third edition): New mutations and new routines for the software
6. Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation
7. Revised diagnostic criteria for the Marfan syndrome
8. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
9. Four novel FBN1 mutations: Significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
10. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
11. Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. Mutation in Brief #260
12. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair
13. Ascertainment and severity of Marfan syndrome in a Scottish population
14. Identification of specific BRCA1 and BRCA2 variants by DHPLC
15. Molecular analysis of eight mutations in FBN1
16. Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice
17. 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
18. G/A polymorphism in an intron of the fibrillin gene FBN1
19. Mutation detection by capillary denaturing high-performance liquid chromatography using monolithic columns
20. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis
21. Low level mosaicism detectable by DHPLC but not by direct sequencing
22. Location on chromosome 15 of the gene defect causing Marfan syndrome
23. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
24. An accurate method for comparing transcript levels of two alleles or highly homologous genes: Application to fibrillin transcripts in Marfan patients' fibroblasts
25. Influence of nearest neighbor sequence on the stability of base pair mismatches in long DNA; determination by temperature-gradient gel electrophoresis
26. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe Marfan syndrome
27. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders
28. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
29. Genotype/phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene (FBN1) because of suspected Marfan syndrome (MFS)
30. A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome
31. When cells stop making sense: Effects of nonsense codons on RNA metabolism in vertebrate cells
32. Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: Hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome. A statement for healthcare professionals from the councils on clinical cardiology, cardiovascular disease in the young, and basic science, American Heart Association
33. Quantification of single nucleotide polymorphisms: A novel method that combines primer extension assay and capillary electrophoresis
34. A rule for termination-codon position within intron-containing genes: When nonsense affects RNA abundance
35. Improved efficiency of mutation detection by denaturing high-performance liquid chromatography using modified primers and hybridization procedure
36. Two-sided confidence intervals for the single proportion: Comparison of seven methods
37. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons
38. Methods for detection of point mutations: Performance and quality assessment
39. Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC)
40. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome
41. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene
42. The Marfan syndrome
43. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: Distinct effects on biochemical and clinical phenotypes
44. High-accuracy DNA sequence variation screening by DHPLC
45. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography
46. The association of nonsense codons with exon skipping
47. Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations
48. Probable inference, the law of succession, and statistical inference
49. Denaturing high-performance liquid chromatography: A review
50. Multiplex capillary denaturing high-performance liquid chromatography with laser-induced fluorescence detection
51. Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene. FBN1