Clinica chimica acta; international journal of clinical chemistry
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Case Reports
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare heterogeneous group of inherited disorders characterized by low bone mass and increased bone fragility. The four major clinical criteria for diagnosis of OI are osteoporosis with abnormal fragility of the skeleton, blue sclera, dentinogenesis imperfecta, and premature otosclerosis. The presence of two of these abnormalities confirms the diagnosis. More than 90% patients have autosomal dominant mutations in one of the two genes, COL1A1 and COL1A2, that encode the alpha chains of type I collagen. While the diagnosis of OI is still based on clinical and radiological grounds, there is a growing demand for the molecular characterization of causative mutations. Although there have been several studies on the mutational spectra of COL1A1 and/or COL1A2 in Western populations, very few cases have been reported from Asia. The purpose of this study is to report two patients with OI type I in a Chinese family, who had a novel RNA-splicing mutation in COL1A1 gene and describe the molecular, radiological and clinical findings. ⋯ We identify a novel RNA-splicing mutation (c.1875+1G>A) in COL1A1 gene resulting in OI type I in a Chinese family. The detailed molecular and clinical features will be useful for extending the evidence for genetic and phenotypic heterogeneity in OI and exploring the phenotype-genotype correlations in OI.
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We investigated the value of plasma deoxyribonucleic acid concentrations in patients presenting with acute abdominal pain to predict need for intensive care or mortality. ⋯ Plasma DNA may have a role in patients with acute abdominal pain as a marker for inflammation and cancer, and a predictor of intensive care unit admission/mortality.