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Open Access 01-12-2016 | Case report

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review

Authors: Octavio D. Reyes-Hernández, Carmen Palacios-Reyes, Sonia Chávez-Ocaña, Enoc M. Cortés-Malagón, Patricia Garcia Alonso-Themann, Víctor Ramos-Cano, Julián Ramírez-Bello, Mónica Sierra-Martínez

Published in: BMC Musculoskeletal Disorders | Issue 1/2016

Abstract

Background

FBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component of microfibrils that are widely distributed in structural elements of elastic and non-elastic tissues. FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric dysplasia, Familial ectopia lentis, Geleophysic dysplasia 2, Stiff skin syndrome, and dominant Weill-Marchesani syndrome.

Case presentation

Two siblings presented with isolated skeletal manifestations of MFS, including severe pectus excavatum, elongated face, scoliosis in one case, and absence of other clinical features according to Ghent criteria diagnosis, were screened for detection of variants in whole FBN1 gene (65 exons). Both individuals were heterozygous for the R2726W variant. This variant has been previously reported in association with some skeletal features of Marfan syndrome in the absence of both tall stature and non-skeletal features. These features are consistent with the presentation of the siblings reported here.

Conclusion

The presented cases confirm that the R2726W FBN1 variant is associated with skeletal features of MFS in the absence of cardiac or ocular findings. These findings confirm that FBN1 variants are associated with a broad phenotypic spectrum and the value of sequencing in atypical cases.

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Title: Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review
Authors: Octavio D. Reyes-Hernández
Carmen Palacios-Reyes
Sonia Chávez-Ocaña
Enoc M. Cortés-Malagón
Patricia Garcia Alonso-Themann
Víctor Ramos-Cano
Julián Ramírez-Bello
Mónica Sierra-Martínez
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: BMC Musculoskeletal Disorders / Issue 1/2016
Electronic ISSN: 1471-2474
DOI: https://doi.org/10.1186/s12891-016-0935-9

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Springer Medicine

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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