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RING 14 NON-PROFIT ASSOCIATION
HELP AND RESEARCH FOR CHILDREN WITH RARE GENETIC DISEASES

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Gene Expression Analysis in Ring Chromosome 14 Syndrome

GENE EXPRESSION ANALYSIS IN RING CHROMOSOME 14 SYNDROME

Project Leader
Nancy Spinner
Host Institute The Children’s Hospital of Philadelphia at The Perelman School of Medicine at the University of Pennsylvania USA
Duration 2 years
Start-up date October 2012
Amount financed € 116.000
Status Renewed project

SUBMITTED TO PEER REVIEW PROCESS WITH INTERNATIONAL BOARD

ABSTRACT
Individuals with a Ring Chromosome 14 have a rare genetic disorder characterized by
intractable seizures. Ring chromosomes have been observed for every human
chromosome and although ring-associated phenotypes may vary depending on the
affected chromosome, patients with ring chromosomes exhibit some commonality,
leading to the hypothesis that the ring itself, irrespective of the specific sequences
involved, causes abnormalities. Several ring chromosomes are associated with seizures,
with chromosome 14 and 20 having the highest correlation. While the mechanism(s)
underlying chromosomal ring formation are not completely understood, it is clear that the
rings result from intrachromosomal fusions, which may be accompanied by additional
aberrations such as deletions or duplications. The timing of the fusion event determines
how many cells are affected, and ring formation can occur in either the parental germ
line (with non-mosaic rings then appearing in every cell) or somatic cells (resulting in
mosaic rings). Ring chromosome 14 can occur with deletions or duplications on the ring chromosome, or in some cases, there is no evidence for alterations of genomic material besides the ring. Nevertheless, in all cases, the rings are associated with seizures.
Our goal is to determine the molecular etiology of the seizures associated with the ring
chromosome 14 syndrome. We will test the hypothesis that gene expression is altered
on ring chromosomes without accompanying genomic alterations and hopefully identify
altered expression profiles that are the cause of the seizures. We will utilize cell lines
from mosaic patients, who have some cells with the ring, and other cells with two normal
chromosomes 14. We will also compare the profiles generated to those from patients with deletions or duplications.

Documents

Project (186 KB)

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