Belgian clinicians report clinical and biological data from a family diagnosed with distal myopathy linked to the STPAN1 gene:
- the clinical picture consisted of muscle weakness that appeared in childhood and progressed slowly;
- high-throughput sequencing studies, and in particular the search for CNVs, revealed a large deletion involving the STPAN1 gene, the DYNC2I2 gene and part of the GLE1 gene;
- the muscular phenotype was relatively non-specific, with subtle abnormalities on biopsy and muscular imaging,
- functional studies attributed the disorders to the STPAN1 gene,
- penetrance was variable, with two subjects carrying the deletion remaining asymptomatic.
The authors emphasise the importance of screening for large rearrangements (CNVs) in addition to routine whole exome studies performed as part of NGS.
