کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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2817664 | 1160005 | 2012 | 4 صفحه PDF | دانلود رایگان |
Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes.
► A novel splicing mutation c.3207+1G>A within COL1A1 gene was identified.
► RNA analysis confirmed a deletion GTGAGACT in exon 43.
► This finding further enriched the OI pathogenic mutation spectrum.
Journal: Gene - Volume 502, Issue 2, 10 July 2012, Pages 168–171