Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta

Zhong, Yaping; Ke, Zunfu; Zeng, Chengli; Wang, Z; Shi, Hong; Wang, L T

doi:10.4238/vol10-1gmr984

Cited by 5 publications

(3 citation statements)

References 19 publications

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“…Of the 56 mutations found during our research, 17 COL1A1 and 10 COL1A2 variants (27/56 pathogenic variants; 48.2 %) were not present in Dalgleish’s OI mutation database (Tables 1 and 2 ) [ https://oi.gene.le.ac.uk/home.php?select_db=COL1A1 ; https://oi.gene.le.ac.uk/home.php?select_db=COL1A2 ]. The percentage of new variants among our patients was higher than in previous studies [ 16 , 22 , 25 , 26 ]. The novelty of the pathogenic variants highlights the originality of the genetic epidemiology of the Vietnamese OI population.…”

Section: Discussioncontrasting

confidence: 88%

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta

Duy¹,

Zhytnik²,

Maasalu³

et al. 2016

Hum Genomics

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BackgroundThe genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese origin. We then systematically characterized the mutation profiles of these two genes which are most commonly related to OI.MethodsGenomic DNA was extracted from EDTA-preserved blood according to standard high-salt extraction methods. Sequence analysis and pathogenic variant identification was performed with Mutation Surveyor DNA variant analysis software. Prediction of the pathogenicity of mutations was conducted using Alamut Visual software. The presence of variants was checked against Dalgleish’s osteogenesis imperfecta mutation database.ResultsThe sample consisted of 91 unrelated osteogenesis imperfecta patients. We identified 54 patients with COL1A1/2 pathogenic variants; 33 with COL1A1 and 21 with COL1A2. Two patients had multiple pathogenic variants. Seventeen novel COL1A1 and 10 novel COL1A2 variants were identified. The majority of identified COL1A1/2 pathogenic variants occurred in a glycine substitution (36/56, 64.3 %), usually serine (23/36, 63.9 %). We found two pathogenic variants of the COL1A1 gene c.2461G > A (p.Gly821Ser) in four unrelated patients and one, c.2005G > A (p.Ala669Thr), in two unrelated patients.ConclusionOur data showed a lower number of collagen OI pathogenic variants in Vietnamese patients compared to reported rates for Asian populations. The OI mutational profile of the Vietnamese population is unique and related to the presence of a high number of recessive mutations in non-collagenous OI genes. Further analysis of OI patients negative for collagen mutations, is required.

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Section: Discussioncontrasting

confidence: 88%

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta

Duy¹,

Zhytnik²,

Maasalu³

et al. 2016

Hum Genomics

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“…For example, in 51.4% of Taiwanese patients ( N = 72), 52.2% of Korean patients ( N = 67), and 59.4% of Vietnamese OI patients ( N = 91) [ 25 , 37 , 38 ]. Due to the difficulties in arranging large cross-population studies of a rare disorder in populous countries, results can often be fragmented, which complicates population-wide estimates [ 39 , 40 ]. However, questions about the lower collagen type I mutational pattern of OI patients from Asian populations remain.…”

Section: Discussionmentioning

confidence: 99%

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients

et al. 2017

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BackgroundOsteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identify the mutational spectrum of COL1A1/2 genes in Estonian patients. The small population size of Estonia provides a unique chance to explore the collagen I mutational profile of 100% of OI families in the country.MethodsWe performed mutational analysis of peripheral blood gDNA of 30 unrelated Estonian OI patients using Sanger sequencing of COL1A1 and COL1A2 genes, including all intron-exon junctions and 5′UTR and 3′UTR regions, to identify causative OI mutations.ResultsWe identified COL1A1/2 mutations in 86.67% of patients (26/30). 76.92% of discovered mutations were located in the COL1A1 (n = 20) and 23.08% in the COL1A2 (n = 6) gene. Half of the COL1A1/2 mutations appeared to be novel. The percentage of quantitative COL1A1/2 mutations was 69.23%. Glycine substitution with serine was the most prevalent among missense mutations. All qualitative mutations were situated in the chain domain of pro-α1/2 chains.ConclusionOur study shows that among the Estonian OI population, the range of collagen I mutations is quite high, which agrees with other described OI cohorts of Northern Europe. The Estonian OI cohort differs due to the high number of quantitative variants and simple missense variants, which are mostly Gly to Ser substitutions and do not extend the chain domain of COL1A1/2 products.

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“…Origin of remaining types are mutations of the gene Serpin peptidase inhibitor, clade F, member 1 (SerpinF1) (OI type VI), genes of the 3-prolyl hydroxylation complex -Cartilage associated protein (CRTAP), Leucine-and proline-enriched proteoglycan 1 (LEPRE1) and Peptidylprolyl isomerase 1 (Cyclophylin B) (PPIB) (OI types VII, VIII and IX), and defects of chaperones Serpin peptidase inhibitor, clade H, member 1 (SerpinH1) and FK506binding protein 10 (FKBP10) (OI types X and XI). Etiology of the fifth OI type is currently unknown [5,18].…”

Section: Introductionmentioning

confidence: 99%

Mutation Analysis of the COL1A1 Gene in Czech Patients Affected by Osteogenesis Imperfecta, Type I-IV

Šormová¹,

Mazura²,

MarAk³

2012

ejbi

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Background: Osteogenesis imperfecta is a worldwide widespread disorder of connective tissue characterized by extensive clinical heterogeneity. The main clinical feature is increased bone fragility due to defective collagen type I production which is encoded by two genes-COL1A1 and COL1A2. Based on clinical, radiological and genetic features there is described 11 forms of the disease. Only the first four types result from the collagen type I mutations. Severity of the disorder ranges from mild to lethal forms. Objectives and Methods: The aim of this study is the molecular-genetic analysis of COL1A1 gene of 25 Czech patients suffering from the disease named osteogenesis imperfecta, specifically type I-IV, and comparison of clinical pictures of individuals with the same identified mutations. Results: COL1A1 gene mutations were identified in three of twenty-five Czech OI patients. These individuals come from unrelated families and are affected by osteogenesis imperfecta type IA, III and IVB. Conclusion: Further molecular-genetic analyses of other patients and their relatives are important for detection of the biggest mutational spectrum necessary for determination of possible genotype phenotype relationship of affected individuals and for comparison the Czech population with others countries.

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Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta

Cited by 5 publications

References 19 publications

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients

Mutation Analysis of the COL1A1 Gene in Czech Patients Affected by Osteogenesis Imperfecta, Type I-IV

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