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

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

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...

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Bibliographic Details
Main Authors: Tingyu Rong, Ruen Yao, Yujiao Deng, Qingmin Lin, Guanghai Wang, Jian Wang, Fan Jiang, Yanrui Jiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-01-01
Series:Frontiers in Pediatrics
Subjects:
SEPSECS mutation
PCCA
PCH2D
milder phenotype
developmental delay
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.805575/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2021.805575/full

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