Browse by author
Lookup NU author(s): Professor Giorgio TascaORCiD
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
© 2017 The AuthorsBackground Collagen VI-related disorders (COL6-RD) are a group of heterogenous muscular diseases due to mutations in the COL6A1, COL6A2 and COL6A3 genes, encoding for collagen VI, a critical component of the extracellular matrix. Ullrich congenital muscle disorder and Bethlem myopathy represent the ends of a clinical spectrum that includes intermediate phenotypes of variable severity. UCMD are caused by recessive loss of function mutations or de-novo dominant-negative mutations. The intermediate phenotype and BM are more commonly caused by dominantly acting mutations, and less commonly by recessive mutations. Recently parental mosaicism for dominant mutations in COL6 have been reported in four COL6-RD families and germinal mosaicism has been also identified in a family with recurrence of UCMD in two half-sibs. Methods and results Here we report three unrelated patients affected by a COL6-RD who carried de novo mosaic mutations in COL6A genes. These mutations, missed by Sanger sequencing, were identified by next generation sequencing. Conclusions This report highlights the importance of a complete diagnostic workup when clinical and histological finding are consistent with a COL6-RD and strengthen the impression that mosaicisms are underestimated events underlying COL6-RD.
Author(s): D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E
Publication type: Article
Publication status: Published
Journal: European Journal of Paediatric Neurology
Print publication date: 01/11/2017
Online publication date: 22/07/2017
Acceptance date: 17/07/2017
ISSN (print): 1090-3798
ISSN (electronic): 1532-2130
Publisher: W.B. Saunders Ltd
PubMed id: 28760337
Altmetrics provided by Altmetric