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2018 | 65 | 1 | 79-86
Article title

Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III

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EN
Abstracts
EN
Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 or COL1A2), no hot spots for the mutations were associated with particular clinical phenotypes. Eight patients that were studied here, diagnosed with OI by clinical standards, are from the Polish population with no ethnic background indicated. Previously unpublished mutations were found in six out of those eight patients. Genotypes for polymorphisms (Sp1 - rs1800012 and PvuII - rs412777), linked to bone formation and metabolism were determined. Mutations were found in exons 2, 22, 50 and in introns 13 and 51 of the COL1A1 gene. In COL1A2, one mutation was identified in exon 22. Deletion type mutations in COL1A1 that resulted in OI type I had no effect on collagen type I secretion, nor on its intracellular accumulation. Also, a single base substitution in I13 (c.904-9 G>T) was associated with the OI type I. The OI type III was associated with a single base change in I51 of COL1A1, possibly causing an exon skipping. Also, a missense mutation in COL1A2 changing Gly→Cys in the central part of the triple helical domain of the collagen type I molecule caused OI type III. It affected secretion of the heterotrimeric form of procollagen type I. However, no intracellular accumulation of procollagen chains could be detected. Mutation in COL1A2 affected its incorporation into procollagen type I. The results obtained shall help in genetic counseling of OI patients and provide a rational support for making informed, life important decisions by them and their families.
Publisher

Year
Volume
65
Issue
1
Pages
79-86
Physical description
Dates
published
2018
received
2017-05-17
revised
2018-02-13
accepted
2018-03-05
(unknown)
2018-03-15
Contributors
  • Department of Molecular Biology and Genetics, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
  • Department of Molecular Biology and Genetics, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
  • Department of Molecular Biology and Genetics, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
  • Jagiellonian University, Collegium Medicum, Chair of Pediatrics, Department of Medical Genetics, Polish-American Children's Hospital, Krakow, Poland
  • Jagiellonian University, Collegium Medicum, Chair of Pediatrics, Department of Medical Genetics, Polish-American Children's Hospital, Krakow, Poland
  • Clinics and Medical Laboratories INVICTA, Genetics Clinic, Gdansk, Poland
author
  • Department of Medical Chemistry, Medical University of Bialystok, Poland
  • Neonatal and Intensive Care Department Medical University of Warsaw, Warsaw, Poland
author
  • Department of Child Neurology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
  • Department of Pediatric Propedeutics and Bone Metabolism Diseases, Medical University in Lodz, Poland
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Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv65p79kz
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