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Pediatr."],"abstract":"<jats:p>Mutations in the human <jats:italic>O<\/jats:italic>-phosphoseryl-tRNA:selenocysteinyl-tRNA synthase gene (<jats:italic>SEPSECS)<\/jats:italic> 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 <jats:italic>SEPSECS<\/jats:italic> 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 <jats:italic>SEPSECS<\/jats:italic> missense variant c.194A&amp;gt;G (p. Asn65Ser) and a novel splicing mutation c.701+1G&amp;gt;A. With these findings we communicate the first Chinese <jats:italic>SEPSECS<\/jats:italic> mutant case, and our report indicates that <jats:italic>SEPSECS<\/jats:italic> mutations can give rise to a milder phenotype.<\/jats:p>","DOI":"10.3389\/fped.2021.805575","type":"journal-article","created":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T08:49:20Z","timestamp":1643186960000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS 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