RT Journal Article
SR Electronic
T1 A novel variant of <em>RBCK1</em> gene causes mild polyglucosan myopathy
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 45
OP 49
DO 10.17712/nsj.2022.1.20210681
VO 27
IS 1
A1 Talal AlAnzi
A1 Fahad Al Harbi
A1 AbdulAziz AlGhamdi
A1 Sarar Mohamed
YR 2022
UL http://nsj.org.sa/content/27/1/45.abstract
AB Homozygous or compound heterozygous pathogenic variants of the RBCK1 gene can result in a systemic disorder characterized by the accumulation of complex carbohydrate molecules, namely polyglucosan bodies in the muscular tissues. The role of this gene in the pathophysiology of the disorder at the molecular level remains unclear. Being a very rare disorder, the medical knowledge is based on just a few reported cases. Here we report a 7-year-old girl who presented with exercise intolerance and hepatosplenomegaly. Her liver profile was constantly raised. The genetic investigation has revealed a variant of the RBCK1 gene of unknown significance, which has later been confirmed as pathogenic via a variety of clinical, genetic, and histopathological approaches. More importantly, it is evident that the availability of sophisticated genetic testing, such as whole-exome sequencing, has significantly improved the knowledge of and diagnosis of many rare metabolic disorders.