Abstract | BACKGROUND: OBJECTIVES: DESIGN: Clinical and neurophysiological examination as well as cytogenetic and molecular analyses. SETTING: MAIN OUTCOME MEASURES: Clinical description of the disease and its genetic cause. RESULTS: Cytogenetic analysis revealed mosaicism for a small chromosome 7 marker chromosome. Microsatellite analysis indicated loss of the paternal allele and maternal uniparental disomy of chromosome 7. In keeping with the maternal imprinting mechanism, no unmethylated allele of SGCE was detected after bisulfite treatment of the patient's DNA, and reverse transcription-polymerase chain reaction demonstrated loss of SGCE expression. Molecular analysis ruled out mutations in the SGCE gene. CONCLUSIONS: We identified a new genetic alteration-maternal chromosome 7 disomy-that can cause myoclonus-dystonia. This alteration results in repression of both alleles of the maternally imprinted SGCE gene and suggests SGCE loss of function as the disease mechanism.
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Authors | Emilie Guettard, Marie-France Portnoi, Katja Lohmann-Hedrich, Boris Keren, Sylvie Rossignol, Susen Winkler, Imen El Kamel, Smaranda Leu, Emmanuelle Apartis, Marie Vidailhet, Christine Klein, Emmanuel Roze |
Journal | Archives of neurology
(Arch Neurol)
Vol. 65
Issue 10
Pg. 1380-5
(Oct 2008)
ISSN: 1538-3687 [Electronic] United States |
PMID | 18852357
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Genetic Markers
- SGCE protein, human
- Sarcoglycans
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Topics |
- Adult
- Chromosomes, Human, Pair 7
(genetics)
- DNA Mutational Analysis
- Dystonic Disorders
(genetics, physiopathology)
- Genetic Markers
(genetics)
- Genetic Predisposition to Disease
(genetics)
- Genomic Imprinting
(genetics)
- Humans
- Inheritance Patterns
(genetics)
- Loss of Heterozygosity
(genetics)
- Male
- Microsatellite Repeats
(genetics)
- Myoclonus
(genetics, physiopathology)
- Sarcoglycans
(genetics)
- Syndrome
- Uniparental Disomy
(diagnosis, genetics)
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