Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics

Laynie Dratch
ORCID logo ,
Tanya M Bardakjian
,
Kelsey Johnson
,
Nareen Babaian
,
Pedro Gonzalez-Alegre
,
Lauren Elman
,
Colin Quinn
,
Michael H Guo
,
Steven S Scherer
,
Defne A Amado
* ORCID logo
Version 1 : Received: 12 January 2024 / Approved: 16 January 2024 / Online: 16 January 2024 (06:25:11 CET)

A peer-reviewed article of this Preprint also exists.

Dratch, L.; Bardakjian, T.M.; Johnson, K.; Babaian, N.; Gonzalez-Alegre, P.; Elman, L.; Quinn, C.; Guo, M.H.; Scherer, S.S.; Amado, D.A. The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics. Biology 2024, 13, 93. Dratch, L.; Bardakjian, T.M.; Johnson, K.; Babaian, N.; Gonzalez-Alegre, P.; Elman, L.; Quinn, C.; Guo, M.H.; Scherer, S.S.; Amado, D.A. The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics. Biology 2024, 13, 93.

Abstract

Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, we use five case examples to illustrate the unique ability of broad-based testing to improve diagnostic yield, resulting in identification of SORD-neuropathy, HADHB-related disease, ATXN2-ALS, MECP2 related progressive gait decline and spasticity, and DNMT1-related cerebellar ataxia, deafness, narcolepsy, and hereditary sensory neuropathy type 1E. We describe in each case the technological advantages that enabled identification of the causal gene, and the resultant clinical and personal implications for the patient, demonstrating the importance of offering exome or genome sequencing to adults with NMDs.

Keywords

Neurogenetics; genetic testing; genetic counseling; neuromuscular

Subject

Medicine and Pharmacology, Neuroscience and Neurology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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