PCDH12-Related Movement DisorderFunding None.
Protocadherin 12 (PCDH12) is a member of a nonclustered group of cell surface proteins. Mutations in the PCDH12 gene can cause varied phenotypes ranging from epilepsy and movement disorders to congenital malformations and calcifications in neuroimaging. We discuss here a 14-year-old boy with a movement disorder that mimicked dyskinetic cerebral palsy in the outpatient department; however, exome sequencing revealed a homozygous premature stop codon in exon 1 of the PCDH12(−) gene. The case highlights the importance of careful clinical examination to look for the features that do not match an assigned neurological syndrome and the need for follow-up neuroimaging to look for any progressive changes in all cases of unexplained movement disorder and intellectual impairment.
Keywordsprotocadherin - PCDH12 - congenital - infection - movement disorder - dyskinetic cerebral palsy
C.R., P.P., and S.B. prepared the initial draft of manuscript, reviewed the literature, and revised the manuscript for intellectual content. V.B. prepared the neuroimaging inputs and revised the manuscript for intellectual content. A.G.S. contributed in conceptualization, critical review of the manuscript, and edited the final version of manuscript. All the authors approve the manuscript for submission.
Received: 11 October 2020
Accepted: 08 December 2020
17 February 2021 (online)
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- 1 Aran A, Rosenfeld N, Jaron R. et al. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. Neurology 2016; 86 (21) 2016-2024
- 2 Nicolas G, Sanchez-Contreras M, Ramos EM. et al. Brain calcifications and PCDH12 variants. Neurol Genet 2017; 3 (04) e166
- 3 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 2018; 63 (06) 749-753
- 4 Guemez-Gamboa A, Çağlayan AO, Stanley V. et al. Loss of protocadherin-12 leads to diencephalic-mesencephalic junction dysplasia syndrome. Ann Neurol 2018; 84 (05) 638-647
- 5 Keeler AB, Molumby MJ, Weiner JA. Protocadherins branch out: multiple roles in dendrite development. Cell Adhes Migr 2015; 9 (03) 214-226
- 6 Vineeth VS, Das Bhowmik A, Balakrishnan S, Dalal A, Aggarwal S. Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. J Hum Genet 2019; 64 (02) 183-189