A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia.
Mutations in the valosin-containing protein (VCP) are known to cause autosomal-dominant inclusion-body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the N-terminal region of the VCP gene in a German family. Family members presented with mild to moderate proximal muscle weakness, Paget disease of bone, and signs of early cognitive decline, with onset in the fourth decade. Two family members also showed signs of early hearing impairment, which was confirmed to be sensorineural in one person, a symptom not yet described in the context of IBMPFD.
Djamshidian
Atbin
A
Department of Neurology, Medical University of Vienna; Währinger Gürtel 18-20, Vienna A-1097, Austria.
Schaefer
Jochen
J
Haubenberger
Dietrich
D
Stogmann
Elisabeth
E
Zimprich
Friedrich
F
Auff
Eduard
E
Zimprich
Alexander
A
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D001120:Arginine / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D003704:Dementia / Q000150:complications / Q000235:genetics; D005192:Family Health; D005260:Female; D005858:Germany; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D018979:Myositis, Inclusion Body / Q000150:complications / Q000235:genetics*; D010001:Osteitis Deformans / Q000150:complications / Q000235:genetics; D000074405:Valosin Containing Protein
D018797:Cell Cycle Proteins; D001120:Arginine; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein; D005998:Glycine