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שינויים גנומים בשיתוק מוחין קריפטוגני

GENOMIC REARRANGEMENTS IN CRYPTOGENIC CEREBRAL PALSY
 
ריבל סגל*, הלה בן-פזי*, שרון זליגסון, אביבה פאתל-ולבסקי, שירה פרלברג, עדי ארן, ורדה גרוס-צור,נירה שנייבאום, דורית שמואלי, דורית לב, אפרת לוי- להד.
 
Reeval Segel1*, Hilla Ben-Pazi2*, Sharon Zeligson1, Aviva Fatal-Valevski3, Shira Perlberg1, Adi Aran2, Varda Gross-Zur2, Nira Shneibaum3, Dorit Shmueli4, Dorit Lev, MD5, , Ephrat Levy-Lahad1
 
1Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem;
2Pediatric Neurology Unit, Shaare Zedek Medical Center, Jerusalem;
3 Pediatric Neurology Unit, Dana Children’s Hospital, Tel-Aviv;
4Jerusalem Child Development Center, Clalit, Jerusalem;
5 Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon; Israel.
 
*These authors contributed equally to the study
 
 
Introduction: We hypothesized that some CP cases have a genetic etiology. Recent studies have shown that genomic rearrangements (GRs) have a role in a number of complex pediatric disorders. The aim of this study was to assess the role of GRs in individuals with CP, using microarray analysis. 

Methods:  We enrolled 55 participants who were most likely to have a
genetic etiology. Inclusion criteria were: 1) non-progressive pyramidal and/or extra-pyramidal symptoms before the age of 3 years 2) brain imaging not characteristic of ischemic damage. Exclusion criteria were targeted at patients with acquired CP: 1) Periventricular-leukomalacia in patients born prematurely (24-34 weeks gestational age) 2) History of hypoxic-ischemic-encephalopathy 3) Hemispheric lesion corresponding to an acquired lesion on imaging studies (stroke or tumor) 4) History of encephalitis or head trauma.
Genomic rearrangements were tested using Affymetrix CytoScan® HD Array and analyzed using ChAS software. Rearrangements were considered potentially pathogenic if they were de novo, and not reported in databases of genomic variants (DGV). 

Results: We found that 16/49 participants analyzed had genomic rearrangements: 7 de novo, 3 inherited and in 6 patients parental testing is still ongoing. Thus, among completely analyzed cases 7/44 (16%) had de novo rearrangements. 

Conclusions: Identifying CNVs with a specific phenotype has an important clinical implication, as this can end the quest for diagnosis, and is useful for prognosis and genetic counseling. Scientifically, elucidating the role of GRs in CP may contribute to understanding CP pathogenesis by identifying specific genes and pathways important for brain development.
 
 
 
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