Bohring-Opitz Syndrome for the Purpose of a Case and  Review of the Topic

Bohring-Opitz Syndrome for the Purpose of a Case and Review of the Topic

Daniela Alejandra Tolosa Quintero

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Carolina Rivera Nieto

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Juan Sebastián Leguizamón Melo

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Cardioinfantil Foundation

Bohring-Opitz Syndrome for the Purpose of a Case and Review of the Topic

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Abstract

The Bohring-Opitz syndrome (BOPS) was first described in 1999 by Bohring et al (1). It is an extremely rare genetic condition, of unknown prevalence, which is caused by de novo or nonsense mutations in the ASXL1 gene. To date 46 people with BOPS have been described, of whom only 20 have a confirmed molecular diagnosis. The BOPS diagnosis is established by clinical suspicion and / or identification of a constitutional heterozygous pathogenic variant in the ASXL1 gene (2). This article shows the first case in Latin America of BOPS confirmed by molecular diagnosis.

References

12 Cites in Article

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Funding

No external funding was declared for this work.

Conflict of Interest

The authors declare no conflict of interest.

Ethical Approval

No ethics committee approval was required for this article type.

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Not applicable for this article.

How to Cite This Article

Daniela Alejandra Tolosa Quintero. 2019. \u201cBohring-Opitz Syndrome for the Purpose of a Case and Review of the Topic\u201d. Global Journal of Medical Research - F: Diseases GJMR-F Volume 19 (GJMR Volume 19 Issue F2).

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GJMR Volume 19 Issue F2

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Journal Specifications

Crossref Journal DOI 10.17406/gjmra

Print ISSN 0975-5888

e-ISSN 2249-4618

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GJMR-F Classification NLMC Code: QU 450

Submission ReceivedDecember 11, 2018
Peer Review Double Blind
Handling Editor
Accepted January 5, 2019
Published January 15, 2019

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v1.2

Issue date

March 15, 2019

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Article Matrices

Total Score: 103

Country: Colombia

Subject: Global Journal of Medical Research - F: Diseases

Authors: Daniela Alejandra Tolosa Quintero, Carolina Rivera Nieto, Juan Sebastián Leguizamón Melo (PhD/Dr. count: 0)

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Publish Date: 2019 03, Fri

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Total Views: 2925

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