Case report: Episodic psychosis caused by a novel SCP2 splicing mutation

Haiyan Tang; Yingying Luo; Zhenchu Tang; Jianguang Tang; Jia Fang

doi:10.3389/fneur.2023.1270793

Case report: Episodic psychosis caused by a novel SCP2 splicing mutation

Front Neurol. 2023 Oct 12:14:1270793. doi: 10.3389/fneur.2023.1270793. eCollection 2023.

Authors

Haiyan Tang¹, Yingying Luo², Zhenchu Tang², Jianguang Tang², Jia Fang²

Affiliations

¹ The Second Xiangya Hospital, and Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, Department of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
² Department of Neurology, The Second Xiangya Hospital of Central South University, Changsha, China.

Abstract

SCPx deficiency is a rare disorder of peroxisomal beta-oxidation dysfunction, and it has only been documented in two patients thus far. In the previously reported patients, both patients were primarily presented with slowly progressive dystonia or ataxia, and they both displayed symmetrical lesions in the thalamus and brainstem on magnetic resonance imaging. This study presents the third patient exhibiting a similar neuroimaging abnormality but a notably different clinical phenotype characterized by episodic psychosis. Through whole-exome sequencing, we identified a homozygous splicing mutation in SCP2 (c.674 + 1G > C), and further RNA sequencing revealed exon 8 skipping in the mature transcripts of SCP2. This study significantly expands our understanding of the genotypic and phenotypic spectrum associated with SCP2-related metabolic encephalopathy.

Keywords: SCP2 mutation; SCPx deficiency; episodic psychosis; peroxisomal beta-oxidation; splicing mutation.

Publication types

Case Reports

Grants and funding

This research was supported by the Natural Science Foundation of Hunan (Grant/Award Number: 2023JJ30750) and the National Natural Science Foundation Youth Fund Project (Grant/Award Number: 82201354).