Title: Two novel nebulin variants in an adult patient with congenital nemaline myopathy
Authors: Güttsches, Anne K ×
Dekomien, Gabriele
Claeys, Kristl
von der Hagen, Maja
Huebner, Angela
Kley, Rudolf A
Kirschner, Janbernd
Vorgerd, Matthias #
Issue Date: May-2015
Publisher: Pergamon Press
Series Title: Neuromuscular Disorders vol:25 issue:5
Article number: 10.1016/j.nmd.2015.01.013
Abstract: Congenital myopathies are clinically and genetically heterogeneous disorders, which often remain genetically undiagnosed for many years. Here we present a 40-year old patient with an almost lifelong history of a congenital myopathy of unknown cause. Muscle biopsy in childhood revealed mild myopathic features and rods. Clinical examination on presentation at the age of 40 revealed a facial weakness, atrophy and weakness of the arm muscles and distal leg muscles with mild contractures of the foot flexors and the right elbow. Subsequently, the nebulin gene was identified as a putative candidate gene by linkage analyses, but sequence analysis only revealed one heterozygous splice site mutation in intron 73 (c.10872+1G>T). Therefore, "Next Generation Sequencing" was performed, which revealed a second pathogenic variant in exon 145 (c.21622A>C). Compound-heterozygous carrier status was confirmed via sequence analysis of the index patient's parents. Whole body muscle MRI showed a muscle involvement as previously described in nebulin-associated myopathies. Based on biopsy material, genetic analyses and muscle MRI, we identified two novel, compound-heterozygous variants in the nebulin gene after a 30 year clinical history, which cause a classical childhood type of nemaline myopathy.
ISSN: 0960-8966
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Faculty of Medicine - miscellaneous
× corresponding author
# (joint) last author

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