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Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.

Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.

Authors :
DeBerardinis RJ
Conforto D
Russell K
Kaplan J
Kollros PR
Zackai EH
Emanuel BS
Source :
American journal of medical genetics. Part A [Am J Med Genet A] 2003 Aug 15; Vol. 121A (1), pp. 31-6.
Publication Year :
2003

Abstract

Autosomal dominant myoclonus-dystonia syndrome (MDS) is characterized by myoclonic and/or dystonic movements with onset as early as infancy. In most families, MDS is caused by mutations in the gene SGCE, which encodes epsilon -sarcoglycan and is located on chromosome 7q21. Data from several sources, including multi-generation pedigrees revealing parent-of-origin effects on MDS penetrance, suggest that SGCE is maternally imprinted. We present a 32-month-old patient with an interstitial deletion affecting chromosome 7q21, and a phenotype including myoclonus, microcephaly, short stature, dysmorphic face and language delay. We used fluorescence in situ hybridization (FISH) to estimate the size of our patient's deletion (9.0-15 Mbp) and to confirm absence of SGCE on the affected chromosome. Polymerase chain reaction (PCR) analysis of polymorphic markers in the region revealed that the paternally inherited chromosome contained the deletion, consistent with a model of maternal SGCE imprinting. Our patient is the first case of MDS caused by complete deletion of SGCE, and represents a new contiguous gene disorder. The case underscores the need to consider chromosomal deletions in patients whose phenotypes are more complex than the classic presentation of a known disease.<br /> (Copyright 2003 Wiley-Liss, Inc.)

Details

Language :
English
ISSN :
1552-4825
Volume :
121A
Issue :
1
Database :
MEDLINE
Journal :
American journal of medical genetics. Part A
Publication Type :
Academic Journal
Accession number :
12900898
Full Text :
https://doi.org/10.1002/ajmg.a.20162