Clinical and genetic analysis of a family with PROMM.
PROMM (proximal myotonic myopathy) and DM2 (myotonic dystrophy Type 2) are autosomal dominant multisystem disorders that have both been linked to chromosome 3q. Recently, the genetic basis of DM2 has been defined by a '(CCTG)(n)' expansion mutation in intron 1 of the ZNF9 gene. We identified and studied a multigenerational family in which five members had clinical features consistent with PROMM. Two affected members were available for detailed clinical, electrophysiological, radiological and genetic analysis. Our study confirms that the PROMM phenotype is associated with DM2-(CCTG)(n) expansion mutations. In addition, our results may extend the clinical spectrum of manifestations to include vestibular symptoms.
Grewal
Raji P
RP
Laboratory of Neurogenetics, New Jersey Neuroscience Institute, Seton Hall University, Edison, NJ 08818, USA. rgrewal@solarishs.org
Zhang
Shanxiang
S
Ma
Wei
W
Rosenberg
Michael
M
Krahe
Ralf
R
D004252:DNA Mutational Analysis / Q000379:methods; D042622:DNA Repeat Expansion / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020967:Myotonic Disorders / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D016601:RNA-Binding Proteins / Q000235:genetics*; D011877:Radionuclide Imaging
C433227:CNBP protein, human; D016601:RNA-Binding Proteins