ArticleIntractable & rare diseases research2015
Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family.
Article in Intractable & rare diseases research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.Acta dermato-venereologica · 2020Pooled it
- Intersecting Pathologies:Diagnostics (Basel, Switzerland) · 2025Article
- Oral manifestations of Ehlers-Danlos syndromes.American journal of medical genetics. Part C, Seminars in medical genetics · 2021Review
- COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.Frontiers in genetics · 2021Article
- Splice receptor-site mutation c.697-2A>G of theIntractable & rare diseases research · 2019Article
- Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.Intractable & rare diseases research · 2019Review
- Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.Intractable & rare diseases research · 2018Article
- Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.Scientific reports · 2016Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteogenesis imperfecta (OI) is an inheritable connective tissue disorder with a broad clinical heterozygosis, which can be complicated by other connective tissue disorders like Ehlers-Danlos syndrome (EDS). OI/EDS are rarely documented. Most OI/EDS mutations are located in the N-anchor region of type I procollagen and predominated by glycine substitution. We identified a c.3521C>T (p.A1174V) heterozygous mutation in COL1A1 gene in a four-generation pedigree with proposed mild OI/EDS phenotype. The affected individuals had blue sclera and dentinogenesis imperfecta (DI) was uniformly absent. The OI phenotype varied from mild to moderate, with the absence of scoliosis and increased skin extensibility. Easy bruising, joint dislocations and high Beighton score were present in some affected individuals. EDS phenotype is either mild or unremarkable in some individuals. The mutation is poorly conserved and in silico prediction support the relatively mild phenotype. The molecular mechanisms of the mutation that leads to the possible OI/EDS phenotype should be further identified by biochemical analysis of N-propeptide processing and steady state collagen analysis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.