Stickler syndrome type I (STL1) is a phenotypically heterogeneous disorder characterized by ocular and extraocular features. It is caused by null-allele mutations in the COL2A1 gene that codes for procollagen II. COL2A1 precursor mRNA undergoes alternative splicing, resulting in two isoforms, a long
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A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome
β Scribed by Vuoristo, Mirka Marjanna ;Pappas, John Georgios ;Jansen, Valerie ;Ala-Kokko, Leena
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 120 KB
- Volume
- 130A
- Category
- Article
- ISSN
- 0148-7299
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A heterozygous deletion of exon 9 in the COL1A2 -mRNA of a patient with symptoms of both the Ehlers -Danlos -Syndrome and the Osteogenesis Imperfecta is described. In the genomic DNA of the patient, exon 9 is homozygously present. We identified a novel heterozygous point mutation in the splice donor