PMID- 12900898
OWN - NLM
STAT- MEDLINE
DCOM- 20040317
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 121A
IP  - 1
DP  - 2003 Aug 15
TI  - Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on 
      chromosome 7q21.
PG  - 31-6
AB  - 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.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - DeBerardinis, Ralph J
AU  - DeBerardinis RJ
AD  - Department of Pediatrics, Division of Human Genetics and Molecular Biology, The 
      Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
FAU - Conforto, Danielle
AU  - Conforto D
FAU - Russell, Karen
AU  - Russell K
FAU - Kaplan, Jennifer
AU  - Kaplan J
FAU - Kollros, Peter R
AU  - Kollros PR
FAU - Zackai, Elaine H
AU  - Zackai EH
FAU - Emanuel, Beverly S
AU  - Emanuel BS
LA  - eng
GR  - GM58759/GM/NIGMS NIH HHS/United States
GR  - HD26979/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Child, Preschool
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Female
MH  - *Gene Deletion
MH  - Genes, Dominant
MH  - Genomic Imprinting/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Myoclonus/*genetics
MH  - Penetrance
MH  - Phenotype
EDAT- 2003/08/06 05:00
MHDA- 2004/03/18 05:00
CRDT- 2003/08/06 05:00
PHST- 2003/08/06 05:00 [pubmed]
PHST- 2004/03/18 05:00 [medline]
PHST- 2003/08/06 05:00 [entrez]
AID - 10.1002/ajmg.a.20162 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Aug 15;121A(1):31-6. doi: 10.1002/ajmg.a.20162.