A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy

• DOI: 10.1038/s10038-018-0432-0
• Publication Date: 2018-04-04T01:57:02Z
• Authors: Sato Suzuki-Muromoto; Keisuke Wakusawa; Takuya Miyabayashi; Ryo Sato; Yukimune Okubo; Wakaba Endo; Takehiko Inui; Noriko Togashi; Atsuko Kato; Hiroshi Oba; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto; Kazuhiro Haginoya
• Keywords: Microcephaly

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.