New genes in neuromuscular diseases

Disrupting pathogenic variants in RNA-binding proteins such as TDP-43, hnRNPA2B1, FUS, TIA-1 are known to cause a spectrum of diseases, including frontotemporal dementia, amyotrophic lateral sclerosis, inclusion body myopathy, and/or distal myopathy. Using deep clinical phenotyping and exome sequencing, we identified six unrelated families all with a distinct class of dominantly-acting heterozygous variants in hnRNPA2B1 with a unique clinical phenotype of early childhood-onset progressive muscle weakness, ophthalmoplegia, ptosis, dysphagia, and variable degrees of respiratory insufficiency but no dementia.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: P. Mohassel, S. Donkervoort, H. Kim, A. Foley, X. Lornage, hnRNPA2B1 Study Group, N. Foulds, S. Hammans, T. Haack, J. B öhm, M. Tarnopolsky, V. Straub, J. Laporte, F. Muntoni, J. Taylor, C. Bönnemann Source Type: research