Evidence map›Paper›PMID 31429852›Full record

ArticleGenetics and molecular biology

Osteogenesis imperfecta in Brazilian patients.

Maira Trancozo, Marcos V D Moraes, Dalila A Silva, Jéssica A M Soares, Clara Barbirato, Márcio G Almeida, Lígia R Santos, Maria R G O Rebouças, Akel N Akel, Valentim Sipolatti and 5 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics and molecular biology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.8field-weighted citation impact, top 14% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 18 citations in OpenAlex.

  1. Article
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  5. Multiple Developmental Defects inInternational journal of biological sciences · 2020
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 4 institutions in 1 country.

Maira TrancozoNúcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
Marcos V D MoraesNúcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
Dalila A SilvaNúcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
Jéssica A M SoaresNúcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
Clara BarbiratoNúcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
Márcio G AlmeidaNúcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
Lígia R SantosNúcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
Maria R G O RebouçasHospital Estadual Infantil Nossa Senhora da Glória, Vitória, ES, Brazil.
Akel N AkelHospital Estadual Infantil Nossa Senhora da Glória, Vitória, ES, Brazil.
Valentim SipolattiHospital Estadual Infantil Nossa Senhora da Glória, Vitória, ES, Brazil.
Vanda R R NunesHospital Estadual Infantil Nossa Senhora da Glória, Vitória, ES, Brazil.
Flavia I V ErreraPrograma de Pós-Graduação em Biotecnologia, Centro de Ciências da Saúde, Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
Meire AguenaInstituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.
Maria R Passos-BuenoInstituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.
Flavia de PaulaNúcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil.ORCID http://orcid.org/0000-0001-8679-2982
Universidade Federal do Espírito Santo · BRHospital Nossa Senhora da Conceição · BRUniversidade de São Paulo · BREscola Superior de Ciências da Santa Casa de Misericórdia de Vitória · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Osteogenesis Imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and fracture. Mutations in 20 distinct genes can cause OI, and therefore, the genetic diagnosis of OI is frequently difficult to obtain because of the great number of genes that can be related with this disease. Studies that report the most frequently mutated genes in OI patients can help to improve molecular strategies for diagnosis of the disease. In order to characterize the mutation profile of OI in Brazilian patients, we analyzed 30 unrelated patients through SSCP screening, NGS gene panel, and/or Sanger sequencing for the 11 most frequently mutated genes in the database of mutations, including COL1A1, COL1A2, P3H1, CRTAP, PPIB, SERPINH1, SERPINF1, FKBP10, SP7, WNT1 and IFITM5. Disease-causing variants were identified in COL1A1, COL1A2, FKBP10, P3H1, and IFITM5. A total of 28 distinct mutations were identified, including seven novel changes. Our data show that the analysis of these five genes is able to detect at least 95% of causative mutations in OI disorder from Brazilian population. However, it has to be taken into considerations that distinct populations can have different frequencies of disease-causing variants. Hence, it is important to replicate this study in other groups.

Identifiers

PMID31429852
PMCPMC6726155
OpenAlexW2968477886

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.