Analysis of COL1A1 and COL1A2 genes in osteogenesis imperfecta patients from Russia

Хусаинова, Р. И.; Надыршина, Д. Д.; Gilyazova, I. R.; Карунас, А. С.; Ахметова, В. Л.; Khidiyatova, I. M.; Khusnutdinova, N. N.; Fedorova, Sardana A.; Khusnutdinova, Elza

doi:10.1016/j.bone.2012.02.333

Cited by 2 publications

(2 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Similar results were observed in Estonian, Swedish, Finnish, and Taiwanese populations (Hartikka et al, 2004; Lin et al, 2015; Lindahl et al, 2015; Zhytnik et al, 2017). However, in a Russian study of 83 OI patients of Turkic and Slavic origin, and in a study of 11 Egyptian patients, pathogenic COL1A2 variants were not observed (Khusainova et al, 2012; Aglan et al, 2015).…”

Section: Discussionmentioning

confidence: 89%

“…At the same time, these results show that Ukrainian OI patients harbor a higher number of COL1A1/2 pathogenic variants than do patients from Russia and Asian populations. Amongst patients from Russia (Yakutia and Bashkortostan regions), the percentage of collagen I pathogenic variants was 41% (Khusainova et al, 2012). Asian populations from Vietnam, Taiwan, and Korea were characterized by COL1A1/2 pathogenic variants of 59%, 51%, and 52%, respectively (Lee et al, 2006; Lin et al, 2015; Ho Duy et al, 2016).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

et al. 2019

View full text Add to dashboard Cite

Osteogenesis imperfecta (OI) is a hereditary bone disorder caused by defects of type I collagen. Although up to 90% of patients harbor pathogenic variants in the COL1A1/2 gene, which codes for collagen α1/2 chains, the spectrum of OI genotypes may differ between populations, and there is academic controversy around OI genotype-phenotype correlations. In the current study, 94 Ukrainian OI families were interviewed. Clinical and genealogical information was collected from patients in spoken form, and their phenotypes were described. To identify the spectrum of collagen I pathogenic variants, COL1A1/2 mutational analysis with Sanger sequencing was performed on the youngest affected individual of every family. Of the 143 patients investigated, 67 (46.85%) had type I OI, 24 (16.78%) had type III, 49 (34.27%) had type IV, and III (2.10%) had type V. The mean number of fractures suffered per patient per year was 1.32 ± 2.88 (type I 0.50 ± 0.43; type III 3.51 ± 6.18; type IV 1.44 ± 1.77; and type 5 0.77 ± 0.23). 87.23% of patients had skeletal deformations of different severity. Blue sclera, dentinogenesis imperfecta, and hearing loss were present in 87%, 55%, and 22% of patients, respectively. COL1A1/2 pathogenic variants were harbored by 60 patients (63.83%). 27 pathogenic variants are described herein for the first time. The majority of the pathogenic variants were located in the COL1A1 gene (76.19%). Half (49.21%) of the pathogenic variants were represented by structural variants. OI phenotype severity was highly correlated with type of collagen I defect. The current article presents an analysis of the clinical manifestations and COL1A1/2 mutational spectrum of 94 Ukrainian OI families with 27 novel COL1A1/2 pathogenic variants. It is hoped that this data and its analysis will contribute toward the increased understanding of the phenotype development and genetics of the disorder.

show abstract

Section: Discussionmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

et al. 2019

View full text Add to dashboard Cite

show abstract

A Single-Center Retrospective Cohort Study of Genotype–Phenotype Correlation of Osteogenesis Imperfecta in UAE

Zubaidi,

Hassani,

Almazrouei

et al. 2024

Journal of Diabetes and Endocrine Practice

View full text Add to dashboard Cite

Background Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by skeletal fragility. Patients with OI suffer recurrent fractures, limb deformities, and kyphoscoliosis. Multiple extraskeletal manifestations might also be present. Autosomal dominant variants in the COL1A1 or COL1A2 genes account for approximately 90% of cases. Objective The aim of the study was to describe the variant spectrum and genotype–phenotype correlations in patients with OI seen in Tawam Hospital in the UAE. Methods The authors conducted a retrospective chart review for all patients with OI assessed by geneticists at Tawam Hospital from January 2010 to December 2021. They retrieved each patient's baseline characteristics, detailed history and physical examination, laboratory, imaging, and genetic results. Results A total of 40 patients with OI were found and included in this study. The majority (80%) were Emirati, and 57.5% were females. Consanguinity was documented in 24.3%. Thirty-seven patients (92.5%) had positive molecular testing; 28 patients (75.7%) had an autosomal dominant inheritance, and 9 patients (24.3%) had an autosomal recessive inheritance. The majority had missense variants. Four variants were novel. A high prevalence of pathogenic variants in the COL1A1 gene (57%) was found. Patients with variants in the LEPRE1 gene had early and severe phenotypes, while patients with variants in the TMEM38B gene had variable presentations. The majority of patients (85%) had skeletal phenotypes: fractures, bone deformity, scoliosis, and osteopenia. Extraskeletal phenotypes included blue sclera, dentinogenesis imperfecta, hearing loss, and dysmorphic features. Conclusion This study reports the genotype–phenotype correlation of OI patients from the UAE. A high prevalence of pathogenic variants in the COL1A1 gene with OI type IV phenotype was found. Further multicenter more extensive studies are recommended.

show abstract

Analysis of COL1A1 and COL1A2 genes in osteogenesis imperfecta patients from Russia

Cited by 2 publications

References 0 publications

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

A Single-Center Retrospective Cohort Study of Genotype–Phenotype Correlation of Osteogenesis Imperfecta in UAE

Contact Info

Product

Resources

About