Key result
Novel compound heterozygous SPEG variants link to severe DCM and mild hypotonia in a neonate.
Why the study?
SPEG variants cause centronuclear myopathy with cardiac disease, but genotype-phenotype correlations remain incomplete.
Case Report (n=1)
No
This case report expands the genotype-phenotype correlations of patients with SPEG variants by identifying novel compound heterozygous variants in a neonate with severe dilated cardiomyopathy.
May warrant SPEG testing in neonates with severe dilated cardiomyopathy; extends genotype-phenotype correlations but leaves open validation in larger cohorts.
Striated muscle preferentially expressed protein kinase (SPEG) variants have been reported to cause centronuclear myopathy associated with cardiac diseases. The severity of skeletal muscle symptoms and cardiac symptoms are presumably related to the location of the variant. Here, we report novel SPEG compound heterozygous pathological variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia. This report expands the genotype-phenotype correlations of patients with SPEG variants.
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Fujimoto et al. (2023) conducted a case report in Dilated cardiomyopathy and hypotonia (n=1). SPEG compound heterozygous variants (p.(Trp1781) and p.(Glu3131Lys)) was evaluated on Genotype-phenotype correlation. Novel compound heterozygous SPEG variants were identified in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia, expanding the known genotype-phenotype correlations.
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