Key result
A heterozygous c.277C>T variant in the VCP gene was identified as the cause of hereditary inclusion body myopathy in a family, presenting with early onset, high creatine kinase levels, and rapid mobility decline.
Case Report (n=2)
This case report expands the phenotypic spectrum of VCP-related inclusion body myopathy by describing a family with the c.277C > T variant presenting with early onset and high creatine kinase levels.
Broadens VCP myopathy spectrum to include axial weakness; leaves open variant-specific risks and management.
Background Missense VCP gene variants lead to a disruption in protein homeostasis causing a spectrum of progressive degenerative diseases. Myopathy is the most frequent manifestation characterized by slowly progressing weakness of proximal and distal limb muscles. We present a family with myopathy due to c.277C > T variant in VCP gene. Case presentation The patient‘s phenotype includes symmetrical muscle wasting and weakness in the proximal parts of the limbs and axial muscles, a wide based gait, lordotic posture, positive Gowers’ sign, mild calf enlargement, impaired mobility, elevated CK, and myopathy in proximal limb muscles. Whole body MRI revealed fatty replacement, predominantly affecting right vastus intermedius and medialis, gastrocnemius and soleus in calf, abdomen wall and lumbar muscles. Next-generation sequencing analysis revealed a pathogenic heterozygous variant c.277C > T (p.(Arg93Cys)) in exon 3 of the VCP gene. Segregation analysis showed that the detected variant is inherited from the affected father who developed symptoms at 60. Conclusion The patients described experienced muscle wasting and weakness in the proximal and distal parts of the limbs which is a common finding in VCP related disease. Nevertheless, the patient has distinguishing features, such as high CK levels, early onset of the disease, and rapid mobility decline.
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Asadauskaitė et al. (2023) conducted a case report in Hereditary inclusion body myopathy (VCP related disease) (n=2). VCP gene variant c.277C>T was evaluated on Clinical phenotype and genetic diagnosis. A heterozygous c.277C>T variant in the VCP gene was identified as the cause of hereditary inclusion body myopathy in a family, presenting with early onset, high creatine kinase levels, and rapid mobility decline.
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