Volume 10 Supplement 2

Proceedings of the 1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases

Open Access

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

Orphanet Journal of Rare Diseases201510(Suppl 2):O20

https://doi.org/10.1186/1750-1172-10-S2-O20

Published: 11 November 2015

Whole genome sequencing strategy allowed identifying the gene responsible for autosomal dominant limb-girdle muscular dystrophy 1F, which was previously linked to locus 7q32.1-32.2. A large Spanish family spanning six generations with limb girdle muscular weakness and distal involvement was find to present a mutation in the stop codon of TNPO3 gene (c.2771delA). The mutation segregates with the clinical phenotype, and is absent in healthy relatives of the family as well as in genomic sequence databases. Histological abnormalities of the nuclei and altered TNPO3 expression assessed in muscle biopsy of the patients indicate impaired TNPO3 function. TNPO3 encodes transportin-3, a serine/arginine rich protein carrier through nuclear membrane. The function of transportin-3 in skeletal muscle has not been thoroughly characterized. The identification of this mutation as the cause of autosomal dominant limb-girdle muscular dystrophy highlights the importance of defects of nuclear envelope proteins as causes of inherited myopathies[1].

Authors’ Affiliations

(1)
Group of Neonatal and Pediatric Pathology/Rare Diseases, Instituto de Investigación Biomédica de Ourense-Pontevedra-Vigo (IBI) Hospital Rebullón

References

  1. Melia MJ, Kubota A, Ortolano S, Vilchez JJ, Gamez J, Tanji K, et al: Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. Brain: a journal of neurology. 2013, 136 (Pt 5): 1508-17.View ArticleGoogle Scholar

Copyright

© Ortolano 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Advertisement