A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia.

Abstract

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.

• Authors: Atbin Djamshidian, Jochen Schaefer, Dietrich Haubenberger, Elisabeth Stogmann, Friedrich Zimprich, Eduard Auff, Alexander Zimprich
• Journal: Muscle & nerve (Muscle Nerve) Vol. 39 Issue 3 Pg. 389-91 (Mar 2009) ISSN: 0148-639X [Print] United States
• PMID: 19208399 (Publication Type: Journal Article)

Chemical References

• Cell Cycle Proteins
• Arginine
• Adenosine Triphosphatases
• VCP protein, human
• Valosin Containing Protein
• Glycine

Topics

• Adenosine Triphosphatases (genetics)
• Adult
• Arginine (genetics)
• Cell Cycle Proteins (genetics)
• DNA Mutational Analysis (methods)
• Dementia (complications, genetics)
• Family Health
• Female
• Germany
• Glycine (genetics)
• Humans
• Male
• Middle Aged
• Mutation, Missense (genetics)
• Myositis, Inclusion Body (complications, genetics)
• Osteitis Deformans (complications, genetics)
• Valosin Containing Protein