Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family.

Autor: Mihaylova V; Department of Neurology, University Hospital and University of Zurich, Zürich, Switzerland., Chablais F; Genetica, Human Genetics and Genetic Counselling Unit, Zurich, Switzerland., Bremer J; Institute of Neuropathology, University Hospital and University of Zurich, Zürich, Switzerland.; Institute of Neuropathology, University Hospital RWTH Aachen, Aachen, Germany ; and., Guggenberger R; Department of Radiology, University Hospital and University of Zurich, Zürich, Switzerland ., Rushing EJ; Institute of Neuropathology, University Hospital and University of Zurich, Zürich, Switzerland., Bethge T; Genetica, Human Genetics and Genetic Counselling Unit, Zurich, Switzerland., Spiegel R; Genetica, Human Genetics and Genetic Counselling Unit, Zurich, Switzerland., Jung HH; Department of Neurology, University Hospital and University of Zurich, Zürich, Switzerland.
Jazyk: angličtina
Zdroj: Journal of clinical neuromuscular disease [J Clin Neuromuscul Dis] 2021 Mar 01; Vol. 22 (3), pp. 173-179.
DOI: 10.1097/CND.0000000000000320
Abstrakt: Abstract: Collagen VI-related myopathies are caused by mutations of COL6A1, COL6A2, and COL6A3 and present with a wide phenotypic spectrum ranging from severe Ulrich congenital muscular dystrophy to mild Bethlem myopathy. Here, we report a consanguineous Kurdish family with 3 siblings affected by autosomal-recessive Bethlem myopathy caused by compound heterozygous mutations of COL6A3. We found the previously described missense mutation c.7447A > G/p.(Lys2483Glu) and a novel large deletion encompassing the exon 1-39 of the COL6A3 gene. Apart from the classical clinical symptoms, all patients had keratoconus, which expands the phenotype of the collagen VI-related myopathies.
Competing Interests: The authors report no conflicts of interest.
(Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)
Databáze: MEDLINE
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