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Case Reports
. 2022 Jan 26:9:805575.
doi: 10.3389/fped.2021.805575. eCollection 2021.

Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene

Tingyu Rong  1   2   3 , Ruen Yao  4 , Yujiao Deng  1   2   3 , Qingmin Lin  1   2   3 , Guanghai Wang  1   2   3 , Jian Wang  4 , Fan Jiang  1   2   3 , Yanrui Jiang  1   2   3
Affiliations
Case Reports

Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene

Tingyu Rong et al. Front Pediatr. .

Abstract

Mutations in the human O-phosphoseryl-tRNA:selenocysteinyl-tRNA synthase gene (SEPSECS) are associated with progressive cerebello-cerebral atrophy (PCCA), also known as pontocerebellar hypoplasia type 2D (PCH2D). Early-onset profound developmental delay, progressive microcephaly, and hypotonia that develops toward severe spasticity have been previously reported with SEPSECS mutations. Herein we report a case with severe global developmental delay, myogenic changes in the lower limbs, and insomnia, but without progressive microcephaly and brain atrophy during infancy and toddlerhood in a child harboring the SEPSECS missense variant c.194A>G (p. Asn65Ser) and a novel splicing mutation c.701+1G>A. With these findings we communicate the first Chinese SEPSECS mutant case, and our report indicates that SEPSECS mutations can give rise to a milder phenotype.

Keywords: PCCA; PCH2D; SEPSECS mutation; developmental delay; milder phenotype.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Case timeline. EEG, electroencephalogram; MRI, magnetic resonance imaging; VEEG, video electroencephalogram; EMG, electromyography.
Figure 2
Figure 2
Brain magnetic resonance imaging (MRI): (A) sagittal, (B) coronal, and (C) OAx planes.
Figure 3
Figure 3
Genetic testing of the patient and analysis of aberrant splicing. (A) Schematic diagram of primer design. (B) Schematic diagram of expected polymerase chain reaction (PCR) product. (C) Electrophoretogram of PCR product from the patient's and control's blood samples. (D) Sequence of aberrant splicing product with intron 5 retention (red arrow indicates the mutation site).
See this image and copyright information in PMC

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