Refining NGS diagnosis of muscular disorders
| Autor: | Svetlana Gorokhova, Mathieu Cerino, Emmanuelle Salort-Campana, Nathalie Bonello-Palot, Nicolas Lévy, Shahram Attarian, A. Sevy, Martin Krahn, Marc Bartoli |
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| Přispěvatelé: | Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Bartoli, Marc |
| Rok vydání: | 2020 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Muscle Proteins Physical examination [SDV.GEN] Life Sciences [q-bio]/Genetics 03 medical and health sciences 0302 clinical medicine medicine Humans Genetic Predisposition to Disease Medical history Muscular dystrophy Medical diagnosis Myopathy Gene Genetic Association Studies [SDV.GEN]Life Sciences [q-bio]/Genetics Polymorphism Genetic medicine.diagnostic_test business.industry medicine.disease 3. Good health Distal Myopathies Psychiatry and Mental health DNM2 Cohort Female Surgery Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neurology, Neurosurgery and Psychiatry Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2020, jnnp-2018-319254. ⟨10.1136/jnnp-2018-319254⟩ Journal of Neurology, Neurosurgery and Psychiatry, 2020, jnnp-2018-319254. ⟨10.1136/jnnp-2018-319254⟩ |
| ISSN: | 1468-330X 0022-3050 0010-0536 |
| DOI: | 10.1136/jnnp-2018-319254 |
| Popis: | In our original publication by Sevy et al ,1 we described a cohort of patients affected with distal myopathy analysed by a large gene panel approach. Given the rapid evolution of genomic diagnostic data and interpretation standards, we now provide the re-evaluation of genetic diagnoses for this cohort. We reported in 2016 a patient (P8 in table 1) carrying a variant in KBTBD13 which led us to give a probable diagnosis implicating this gene.1 Based on the initial medical history of the patient, this case was considered as sporadic. Despite efforts to collect further family samples, only the index patient’s DNA was available for analysis at that time. Once further investigation of this family became possible, clinical examination of the patient’s mother revealed a similar phenotype as her son, suggesting an autosomal dominant inheritance. Targeted sequencing showed that she did not carry the KBTBD13 variant, arguing against the initially suggested pathogenic role of this variant. Patient P8 and the patient’s mother were then analysed by a newly designed gene panel with improved gene coverage and a larger list of genes using an actualised version of the Gene Table of Neuromuscular Disorder.2 View this table: Table 1 Pathogenicity reassessment of each identified variant for Sevy et al publication1 patients with definite, probable and possible diagnoses Doing so, we identified the c.1483G>A (p.(Gly495Arg)) variant in the DNM2 gene (NM_001005361.3) for both of these patients. Even though this variant is not yet described in the literature, we classified this variant … |
| Databáze: | OpenAIRE |
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