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Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene manifesting clinically as osteogenesis imperfecta
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Saboor Aftab, S. A., Reddy, Narendra Lakshmana, Owen, N. L., Pollitt, R., Harte, A. L., McTernan, P. G., Tripathi, Gyanendra and Barber, T. M. (2013) Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene manifesting clinically as osteogenesis imperfecta. Endocrinology, Diabetes & Metabolism Case Reports . p. 13. EDM130002. doi:10.1530/EDM-13-0002
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Official URL: http://dx.doi.org/10.1530/EDM-13-0002
Abstract
A 19-year-old woman was diagnosed with osteogenesis imperfecta (OI). She had sustained numerous low-trauma fractures throughout her childhood, including a recent pelvic fracture (superior and inferior ramus) following a low-impact fall. She had the classical blue sclerae, and dual energy X-ray absorptiometry (DEXA) bone scanning confirmed low bone mass for her age in the lumbar spine (Z-score was −2.6). However, despite these classical clinical features, the diagnosis of OI had not been entertained throughout the whole of her childhood. Sequencing of her genomic DNA revealed that she was heterozygous for the c.3880_3883dup mutation in exon 50 of the COL1A1 gene. This mutation is predicted to result in a frameshift at p.Thr1295, and truncating stop codon 3 amino acids downstream. To our knowledge, this mutation has not previously been reported in OI.
| Item Type: | Journal Article | ||||
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| Subjects: | R Medicine > RB Pathology R Medicine > RC Internal medicine R Medicine > RD Surgery |
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| Divisions: | Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Biomedical Sciences > Translational & Experimental Medicine > Metabolic and Vascular Health (- until July 2016) Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School |
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| Library of Congress Subject Headings (LCSH): | Osteogenesis imperfect, Bones -- Diseases, Eating disorders in women , Weight loss , Asthenia , Osteoporosis -- Treatment, Diphosphonates, Diphosphonates -- Therapeutic us | ||||
| Journal or Publication Title: | Endocrinology, Diabetes & Metabolism Case Reports | ||||
| Publisher: | Bioscentifica | ||||
| Official Date: | 1 July 2013 | ||||
| Dates: |
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| Page Range: | p. 13 | ||||
| Article Number: | EDM130002 | ||||
| DOI: | 10.1530/EDM-13-0002 | ||||
| Status: | Peer Reviewed | ||||
| Publication Status: | Published | ||||
| Access rights to Published version: | Open Access (Creative Commons) |
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