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01.12.2016 | Case report | Ausgabe 1/2016 Open Access

BMC Musculoskeletal Disorders 1/2016

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

Zeitschrift:
BMC Musculoskeletal Disorders > Ausgabe 1/2016
Autoren:
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
Wichtige Hinweise

Competing interests

The authors declare that they have no competing interests associated with this publication and there has been no significant financial support for this work that could have influenced its outcome.

Authors’ contributions

OR carried out the molecular genetic studies and drafted the manuscript. CP made the clinical analysis and correlations, drafted the manuscript. SC has made substantial contributions to clinical analysis and conception and design. EC drafted the manuscript and contributed to the analysis of sequences. PGA made clinical evaluation and drafted the manuscript. VR participated in conception of the work and the sequence alignment. JR drafted the manuscript and contributed to intellectual analysis of results. MS participated in the design and coordination of the study and helped to draft the manuscript. All authors read and approved the final manuscript.

Authors’ information

OD Researcher at Laboratorio de Genética and Diagnóstico Molecular, Hospital Juárez de México. Ciudad de México, México. maiden_sp@yahoo.com.mx
CP Medical Specialist at Hospital Juárez de México. Ciudad de México, México. cyapalacios@gmail.com
SC Medical Specialist at Hospital Juárez de México. Ciudad de México, México. soncargen@yahoo.com.mx
EC Researcher at Laboratorio de Genética and Diagnóstico Molecular, Hospital Juárez de México. Ciudad de México, México emcortes@cinvestav.mx
VR Medical Specialist at Hospital Juárez de México. Ciudad de México, México. nihonnoryuu@yahoo.com.com.jp
PGA Medical Specialist at Instituto Nacional de Perinatología. Ciudad de México, México. pgalonsot@yahoo.com
JR Laboratorio de Medicina Genómica, Hospital Juárez de México, Ciudad de México, México. dr.julian.ramirez.inv@gmail.com
MS Biomedical researcher at Laboratorio de Genética y Diagnóstico Molecular, Hospital Juárez de México. Ciudad de México, México. sierrammtz@gmail.com

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.
Literatur
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