Key result
Whole exome sequencing successfully identified a novel hemizygous missense mutation in the MTM1 gene, establishing the diagnosis of X-linked centronuclear myopathy in critically ill preterm twins.
Case Report (n=2)
No
Whole exome sequencing is a valuable, noninvasive diagnostic tool for critically ill newborns with suspected monogenic diseases, avoiding high-risk procedures like muscle biopsy under general anesthesia.
Supports WES as noninvasive diagnostic option in neonates with suspected myopathy; leaves open prospective validation before wider adoption.
X-linked centronuclear myopathy (CNMX) is a severe congenital myopathy resulting from mutations in the myotubularin (MTM1) gene.1 Patients with CNMX usually present with profound weakness, muscular hypotonia, and respiratory failure in the neonatal period.2 Diagnosis is based on characteristic histopathological findings in skeletal muscle specimens from males with suggestive clinical features and the identification of supporting genetic defects.3 However, muscle biopsy requiring general anesthesia can be a high-risk procedure in premature infants or in patients with a poor general condition.
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Johannsen et al. (2016) conducted a case report in X-linked centronuclear myopathy (n=2). Whole exome sequencing was evaluated on Identification of causative genetic mutation. Whole exome sequencing successfully identified a novel hemizygous missense mutation in the MTM1 gene, establishing the diagnosis of X-linked centronuclear myopathy in critically ill preterm twins.
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