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Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome
- Source :
- Journal of Human Genetics. 45:115-118
- Publication Year :
- 2000
- Publisher :
- Springer Science and Business Media LLC, 2000.
-
Abstract
- Marfan syndrome (MFS; MIM #154700) is a connective tissue disorder characterized by cardiovascular, skeletal, and ocular abnormalities. The fibrillin-1 gene (FBN1; MIM no. 134797) on chromosome 15 was revealed to be the cause of Marfan syndrome. To date over 137 types of FBN1 mutations have been reported. In this study, two novel mutations and a recurrent de-novo mutation were identified in patients with MFS by means of single-strand conformational polymorphism (SSCP) analysis. The two novel mutations are a 4-bp deletion at nucleotide 2820-2823 and a G-to-T transversion at nucleotide 1421 (C474F), located on exon 23 and exon 11, respectively. A previously reported mutation at the splicing donor site of intron 2 (IVS2 G + 1A), which is predicted to cause exon skipping, was identified in a sporadic patient with classical MFS.
- Subjects :
- Male
musculoskeletal diseases
Marfan syndrome
congenital, hereditary, and neonatal diseases and abnormalities
Fibrillin-1
RNA Splicing
DNA Mutational Analysis
Mutation, Missense
Biology
Fibrillins
medicine.disease_cause
Polymerase Chain Reaction
Marfan Syndrome
Chromosome 15
Exon
Genetics
medicine
Humans
Missense mutation
skin and connective tissue diseases
Polymorphism, Single-Stranded Conformational
Genetics (clinical)
Sequence Deletion
Extracellular Matrix Proteins
Mutation
Microfilament Proteins
Single-strand conformation polymorphism
DNA
Exons
Middle Aged
medicine.disease
Molecular biology
Exon skipping
Amino Acid Substitution
Female
Fibrillin
Subjects
Details
- ISSN :
- 1435232X and 14345161
- Volume :
- 45
- Database :
- OpenAIRE
- Journal :
- Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....89c1f295396df3ab3a99839f7d15d3bb
- Full Text :
- https://doi.org/10.1007/s100380050027