COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report

Dirani, Michella; Cuenca, Victor D.; Romero, Vanessa

doi:10.3389/fsurg.2022.986372

Cited by 3 publications

(3 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A splice variant modifies the DNA sequence at the splice site, delineating the boundary between exons and introns. This modification can result in the inclusion of introns, the loss of exons, and a change in the protein-coding sequence, thereby disrupting the process of RNA splicing [ 21 ]. It can disrupt or diminish mRNA processing via exon skipping or cryptic splice-site activation [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns

Nmer,

Ameli,

Trhanint

et al. 2024

Cureus

View full text Add to dashboard Cite

LAMA2-related muscular dystrophies (LAMA2-RDs) constitute the most prevalent subtype of congenital muscular dystrophies (CMDs). The clinical spectrum of LAMA2-RDs exhibits considerable diversity, particularly in motor development and disease progression. Phenotypic variability ranges from severe, earlyonset presentation, known as merosin-deficient CMD type 1A, to milder, late-onset presentations, including limb-girdle muscular dystrophy-like phenotype. In this study, whole exome sequencing (WES) was applied to a family with a single proband affected by severe muscular dystrophy. The identified causative mutation was a biallelic splice-site mutation in intron 58 of the LAMA2 gene, leading to a premature termination codon in the critical G domain of laminin-α2 and resulting in a severe phenotype. Additionally, we summarized previously reported splice-site mutations to investigate the clinical and transcription consequences of these mutations. Our findings conclude that splice-site mutations predominantly lead to severe MDC1A, whether in a homozygous or heterozygous state, often associated with another loss-of-function mutation. Besides, splice-site mutations with available analysis of their transcriptional consequences were found to be responsible for exon skipping in most cases and the loss of the reading frame. These findings revealed the importance of WES in identifying disease-causing mutations, particularly in highly diversified pathologies like LAMA2-RDs. The results also underscore the importance of transcriptional analysis in determining the impact of splice-site mutations and the phenotype of LAMA2-RDs on patients.

show abstract

Section: Discussionmentioning

confidence: 99%

Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns

Nmer,

Ameli,

Trhanint

et al. 2024

Cureus

View full text Add to dashboard Cite

show abstract

“…In the present study, the RUNX2 and COL1A1 genes were examined to assess the extent of osteogenicity. COL1A1 is one of the early markers in the osteogenic differentiation process, and defects in this gene lead to fragile bones (Marom, Rabenhorst et al 2020, Dirani, Cuenca et al 2022). In vitro and in vivo studies show that RUNX2 controls the expression of the major bone matrix protein that resides in the promoter of several osteoblast-speci c genes (Liu and Lee 2013, Zhang and Li 2018).…”

Section: Discussionmentioning

confidence: 99%

Investigation on the Oxytocin Effect on Proliferation and Osteogenic/Odontogenic Differentiation of Human Stem Cells from the Apical Papilla: An in vitro study

Khoshbin,

rasooli,

najafi

et al. 2023

Preprint

View full text Add to dashboard Cite

Objective This experimental study was conducted with the aim of investigating the effect of oxytocin (OT) on the proliferation and osteo/odontogenic differentiation of human stem cells from the apical papilla (hSCAPs). Material and Methods hSCAPs were isolated from the apical papilla of the incomplete root of human third molar. MTT assay was performed in three concentrations of 25, 50 and 100 nM OT at 24, 48 and 72 hours to evaluate cell viability and proliferation. 100 nM OT was given to the experimental groups in osteogenic environment. Osteogenic differentiation of hSCAPs was evaluated using alizarin red staining, ALP activity and qPCR on days 7, 14 and 21. The ANOVA analysis, Tukey’s test, and t-test was implemented to analyze the data (α = 0.05). Results After 24 hours all there concentrations (25,50and 100nM) and after 48 and 72 hours only 100 nM concentration of OT had a significant positive effect on the survival/proliferation rate of hSCAPs (P < 0.001). Alizarin red staining evaluation showed successful differentiation of the cells of all groups. Quantitative analysis of the staining revealed treatment with OT increased the osteogenic differentiation of hSCAPs. Molecular analysis by qPCR showed increased expression of osteogenic genes, including ALP, COL1A1 and RUNX2, and as well as odontogenic genes, including DSPP, and DMP1. And also, ALP activity of the cells under OT treatment, at all three time points was higher than the control group. Conclusion The results of the present study showed that OT has a positive effect on the proliferation and osteo/odentogenic differentiation of hSCAPs. It suggested, the potential application of OT in regenerative endodontics.

show abstract

“…The inclusion of BCS in the revised 2017 international Ehlers-Danlos Syndrome (EDS) classification emphasizes its connection with EDS [6,7]. In situations where a corneal rupture has not yet occurred, it can often be confused with other connective tissue diseases, such as Marfan syndrome [8,9], osteogenesis imperfecta (OI) [10,11], or kyphoscoliotic Ehlers-danlos syndrome (kEDS) [12][13][14]. Given the overlapping clinical presentations and pathophysiological features of these diseases, accurate identification and diagnosis in the early stages can often be challenging.…”

Section: Discussionmentioning

confidence: 99%

Characteristics of brittle cornea syndrome by multimodal imaging modalities: a case report

Wang,

Zhang,

Gao

et al. 2023

BMC Ophthalmol

View full text Add to dashboard Cite

Background A report of a Brittle cornea syndrome (BCS) case with bluish scleral discoloration, keratoglobus, and myopia based on multimodal imaging modalities including in vivo confocal microscopy (IVCM), high-definition optical coherence tomography (HD-OCT) and scheimpflug corneal densitometry analysis. Case presentation A 36-year-old Chinese female patient presented with significant bluish discoloration of the sclera in both eyes, extreme corneal thinning with increased corneal curvature, increased central corneal densitometry, and nystagmus. She also had scoliosis, severe osteoporosis, and thyroid disease. Conclusions Timely diagnosis, early detection, and detailed follow-up are essential for BCS. There has been no report of a BCS evaluation performed by IVCM and corneal densitometry methods thus far in the literature. Furthermore, multimodal imaging can offer a more comprehensive view of BCS and contribute to a deeper understanding of the disease. Interestingly, this is a rare case of BCS in an adult with good vision, an intact cornea, and nystagmus.

show abstract

COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report

Cited by 3 publications

References 11 publications

Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns

Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns

Investigation on the Oxytocin Effect on Proliferation and Osteogenic/Odontogenic Differentiation of Human Stem Cells from the Apical Papilla: An in vitro study

Characteristics of brittle cornea syndrome by multimodal imaging modalities: a case report

Contact Info

Product

Resources

About