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

• Main Authors: Tingyu Rong (Author), Ruen Yao (Author), Yujiao Deng (Author), Qingmin Lin (Author), Guanghai Wang (Author), Jian Wang (Author), Fan Jiang (Author), Yanrui Jiang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...