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. 2015 Aug 3:6:7949.
doi: 10.1038/ncomms8949.

Clinically relevant copy number variations detected in cerebral palsy

Maryam Oskoui  1 , Matthew J Gazzellone  2   3 , Bhooma Thiruvahindrapuram  2   3 , Mehdi Zarrei  2   3 , John Andersen  4   5 , John Wei  2   3 , Zhuozhi Wang  2   3 , Richard F Wintle  2   3 , Christian R Marshall  2   3   6 , Ronald D Cohn  3   7   8   9 , Rosanna Weksberg  3   7   9   10 , Dimitri J Stavropoulos  6   11 , Darcy Fehlings  12 , Michael I Shevell  1 , Stephen W Scherer  2   3   8   13
Affiliations

Clinically relevant copy number variations detected in cerebral palsy

Maryam Oskoui et al. Nat Commun. .

Abstract

Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age of onset, frequently accompanied by co-morbidities. The cause of CP has historically been attributed to environmental stressors resulting in brain damage. While genetic risk factors are also implicated, guidelines for diagnostic assessment of CP do not recommend for routine genetic testing. Given numerous reports of aetiologic copy number variations (CNVs) in other neurodevelopmental disorders, we used microarrays to genotype a population-based prospective cohort of children with CP and their parents. Here we identify de novo CNVs in 8/115 (7.0%) CP patients (∼1% rate in controls). In four children, large chromosomal abnormalities deemed likely pathogenic were found, and they were significantly more likely to have severe neuromotor impairments than those CP subjects without such alterations. Overall, the CNV data would have impacted our diagnosis or classification of CP in 11/115 (9.6%) families.

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Figures

Figure 1
Figure 1. CNVs affecting PARK2 and PACRG.
The de novo duplication in patient 13-009C impacting both PARK2 and PACRG is illustrated by the blue bar above. Inherited deletions (denoted by the red bars) have been identified in exon 4 of PARK2 (NM_004562.2) in subject 8-03C and in exon 4 of PACRG (NM_152410.2) in subject 3-07C.
See this image and copyright information in PMC

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