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

Ralph J. DeBerardinis, Danielle Conforto, Karen Russell, Jennifer Kaplan, Peter R. Kollros, Elaine H. Zackai, Beverly S. Emanuel

Research output: Contribution to journalArticle

27 Citations (Scopus)

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 ε-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.

Original languageEnglish (US)
Pages (from-to)31-36
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume121 A
Issue number1
StatePublished - Aug 15 2003

Fingerprint

Sarcoglycans
Myoclonus
Chromosomes
Chromosome Deletion
Language Development Disorders
Phenotype
Microcephaly
Penetrance
Information Storage and Retrieval
Pedigree
Fluorescence In Situ Hybridization
Genes
Mothers
Polymerase Chain Reaction
Mutation
Myoclonic dystonia

Keywords

  • Chromosome deletion syndrome
  • Fluorescence in situ hybridization
  • Imprinting
  • Myoclonus
  • SGCE

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

DeBerardinis, R. J., Conforto, D., Russell, K., Kaplan, J., Kollros, P. R., Zackai, E. H., & Emanuel, B. S. (2003). Myoclonus in a patient with a deletion of the ε-sarcoglycan locus on chromosome 7q21. American Journal of Medical Genetics, 121 A(1), 31-36.

Myoclonus in a patient with a deletion of the ε-sarcoglycan locus on chromosome 7q21. / DeBerardinis, Ralph J.; Conforto, Danielle; Russell, Karen; Kaplan, Jennifer; Kollros, Peter R.; Zackai, Elaine H.; Emanuel, Beverly S.

In: American Journal of Medical Genetics, Vol. 121 A, No. 1, 15.08.2003, p. 31-36.

Research output: Contribution to journalArticle

DeBerardinis, RJ, Conforto, D, Russell, K, Kaplan, J, Kollros, PR, Zackai, EH & Emanuel, BS 2003, 'Myoclonus in a patient with a deletion of the ε-sarcoglycan locus on chromosome 7q21', American Journal of Medical Genetics, vol. 121 A, no. 1, pp. 31-36.
DeBerardinis RJ, Conforto D, Russell K, Kaplan J, Kollros PR, Zackai EH et al. Myoclonus in a patient with a deletion of the ε-sarcoglycan locus on chromosome 7q21. American Journal of Medical Genetics. 2003 Aug 15;121 A(1):31-36.
DeBerardinis, Ralph J. ; Conforto, Danielle ; Russell, Karen ; Kaplan, Jennifer ; Kollros, Peter R. ; Zackai, Elaine H. ; Emanuel, Beverly S. / Myoclonus in a patient with a deletion of the ε-sarcoglycan locus on chromosome 7q21. In: American Journal of Medical Genetics. 2003 ; Vol. 121 A, No. 1. pp. 31-36.
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