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Publication Detail
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Bugiardini E, Khan AM, Phadke R, Lynch DS, Cortese A, Feng L, Gang Q, Pittman AM, Morrow JM, Turner C, Carr AS, Quinlivan R, Rossor AM, Holton JL, Parton M, Blake JC, Reilly MM, Houlden H, Matthews E, Hanna MG
  • Publication date:
    01/10/2019
  • Journal:
    Neuromuscular Disorders
  • Status:
    Published online
  • Print ISSN:
    0960-8966
Abstract
© 2019 Diagnosis of inherited myopathies can be a challenging and lengthy process due to broad genetic and phenotypic heterogeneity. In this study we applied focused exome sequencing to investigate a cohort of 100 complex adult myopathy cases who remained undiagnosed despite extensive investigation. We evaluated the frequency of genetic diagnoses, clinical and pathological factors most likely to be associated with a positive diagnosis, clinical pitfalls and new phenotypic insights that could help to guide future clinical practice. We identified pathogenic/likely pathogenic variants in 32/100 cases. TTN-related myopathy was the most common diagnosis (4/32 cases) but the majority of positive diagnoses related to a single gene each. Childhood onset of symptoms was more likely to be associated with a positive diagnosis. Atypical and new clinico-pathological phenotypes with diagnostic pitfalls were identified. These include the new emerging group of neuromyopathy genes (HSPB1, BICD2) and atypical biopsy findings: COL6A-related myopathy with mitochondrial features, DOK7 presenting as myopathy with minicores and DES-related myopathy without myofibrillar pathology. Our data demonstrates the diagnostic efficacy of broad NGS screening when combined with detailed clinico-pathological phenotyping in a complex neuromuscular cohort. Atypical clinico-pathological features may delay the diagnostic process if smaller targeted gene panels are used.
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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UCL Queen Square Institute of Neurology
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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UCL Queen Square Institute of Neurology
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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