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Tytuł:
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Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress.
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Autorzy:
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François-Heude, Marie-Céline
Walther-Louvier, Ulrike
Espil-Taris, Caroline
Beze-Beyrie, Pierre
Rivier, François
Baudou, Eloise
Uro-Coste, Emmanuelle
Rigau, Valérie
Martin Negrier, Marie Laure
Rendu, John
Morales, Raul Juntas
Pégeot, Henri
Thèze, Corinne
Lacourt, Delphine
Coville, Anne Cécile
Cossée, Mireille
Cances, Claude
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Temat:
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NEUROMUSCULAR diseases
RESPIRATORY diseases
NEONATAL diseases
MUSCULAR dystrophy
SPINAL muscular atrophy
FACIOSCAPULOHUMERAL muscular dystrophy
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Źródło:
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European Journal of Paediatric Neurology; Mar2021, Vol. 31, p78-87, 10p
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With the exception of infantile spinal muscular atrophy (SMA) and congenital myotonic dystrophy 1 (DM1), congenital myopathies and muscular dystrophies with neonatal respiratory distress pose diagnostic challenges. Next-generation sequencing (NGS) provides hope for the diagnosis of these rare diseases. We evaluated the efficiency of next-generation sequencing (NGS) in ventilated newborns with peripheral hypotonia. We compared the results of our previous study in a cohort of 19 patients analysed by Sanger sequencing from 2007 to 2012, with a diagnostic yield of 26% (5/19), and those of a new retrospective study in 28 patients from 2007 to 2018 diagnosed using MyoPanel, a neuromuscular disease panel, with a diagnostic yield of 43% (12/28 patients). Pathogenic variants were found in five genes: ACTA1 (n = 4 patients), RYR1 (n = 2), CACNA1S (n = 1), NEB (n = 3), and MTM1 (n = 2). Myopanel increased the diagnosis of congenital neuromuscular diseases, but more than half the patients remained undiagnosed. Whole exome sequencing did not seem to fully respond to this diagnostic limitation. Therefore, explorations with whole genome sequencing will be the next step. • NGS helps in the diagnosis of severe neonatal neuromuscular diseases. • NGS is efficient to diagnose congenital myopathies and muscular dystrophies. • We identified rare pathogenic variants in CACNA1S. • We confirmed the need to carry out whole genome sequencing studies. [ABSTRACT FROM AUTHOR]
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