Key result
Biallelic LINE insertion mutation in HACD1 linked to congenital myopathy.
Why the study?
Congenital myopathies are clinically and genetically heterogeneous disorders with mutations in at least 30 genes, and genetics have become primary in diagnosis over muscle biopsy.
Case Report
Identifies a biallelic LINE insertion mutation in HACD1 as a cause of congenital myopathy.
Adds HACD1 to congenital myopathy genes; leaves open diagnostic yield and testing implications pending replication.
Congenital myopathies are clinically and genetically heterogeneous, resulting from mutations in at least 30 different genes.1 The classical presentation is neonatal hypotonia and nonprogressive weakness with normal creatine phosphokinase, although there is a broad range in terms of age at onset and clinical presentation. Historically, congenital myopathies have been defined and diagnosed based on muscle biopsy. However, with advances in genomics, genetics have taken primacy in the diagnostic pathway.2
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Amrani et al. (2020) conducted a case report in Congenital myopathy. Biallelic LINE insertion mutation in HACD1 was evaluated. A biallelic LINE insertion mutation in HACD1 was identified as a cause of congenital myopathy.
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