期刊
GENETICS IN MEDICINE
卷 20, 期 2, 页码 172-180出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2017.83
关键词
copy-number variation; exome sequencing; hemiplegic cerebral palsy; microarray
资金
- Ontario Brain Institute - Government of Ontario
- Genome Canada
- Canada Foundation for Innovation
- Canadian Institute for Advanced Research (CIFAR)
- Government of Ontario
- Canadian Institutes of Health Research
- Hospital for Sick Children
- University of Toronto McLaughlin Centre
Purpose: Hemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP. Methods: We genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0.1% frequency) that might be relevant to CP. We also sequenced exomes of CNV-positive trios. Results: We detected de novo CNVs and/or sex chromosome abnormalities in 7/97 (7.2%) of probands, impacting important developmental genes such as GRIK2, LAMA1, DMD, PTPRM, and DIP2C. In 18/97 individuals (18.6%), rare inherited CNVs were found, affecting loci associated with known genomic disorders (17p12, 22q11.21) or involving genes linked to neurodevelopmental disorders. Conclusion: We found an increased rate of de novo CNVs in the hemiplegic CP subtype (7.2%) compared to controls (1%). This result is similar to that for an unselected CP group. Combined with rare inherited CNVs, the genomic data impacts the understanding of the potential etiology of hemiplegic CP in 23/97 (23.7%) of participants.
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