Abstract
Here we report a Japanese patient with new compound heterozygous truncating variants in the PCDH12 gene. As compared to the previously reported families who had congenital microcephaly, intrauterine growth retardation, intracranial calcification, and neonatal seizure associated with dysplasia of the midbrain-hypothalamus-optic tract, the present patient showed no midbrain-hypothalamus dysplasia or congenital/postnatal microcephaly, but dyskinetic cerebral palsy and severe intellectual disability as well as multifocal epilepsy. To understand phenotypic spectrum associated with PCDH12 variants, more reports are needed.
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Acknowledgements
We thank the patient and the patient’s family for the participation in this study. This study was supported partly by a Grants from Research on Measures for Intractable Diseases (NM), Comprehensive Research on Disability Health and Welfare (NM), the Strategic Research Program for Brain Science (NM), the Initiative on Rare and Undiagnosed Diseases in Pediatrics (NM), the Initiative on Rare and Undiagnosed Diseases for Adults (NM) from the Japanese Agency for Medical Research and Development; a Grant-in-Aid for Scientific Research on Innovative Areas (Transcription Cycle) from the Ministry of Education, Culture, Sports, Science and Technology of Japan; Grants-in-Aid for Scientific Research (A and C), and challenging Exploratory Research from the Japan Society for the Promotion of Science (JSPS); the fund for the Creation of Innovation Centers for Advanced Interdisciplinary Research Areas Program in the Project for Developing Innovation Systems (NM) from the Japanese Science and Technology Agency; and the Takeda Science Foundation (NM).
Author contributions
SS-M: study conceptualization; design; and manuscript preparation. KW, RS, TM, YO, WE, TI, NT, and AK: clinical evaluation and rehabilitation. MN, HS, NM: gene analysis and interpretation of genetic analysis data. HO: interpretation of neuroradiological data. KH: study concept; critical revision of the manuscript; and study supervision.
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Suzuki-Muromoto, S., Wakusawa, K., Miyabayashi, T. et al. A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy. J Hum Genet 63, 749–753 (2018). https://doi.org/10.1038/s10038-018-0432-0
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DOI: https://doi.org/10.1038/s10038-018-0432-0
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