Pontocerebellar Hypoplasia 7 with Novel Compound Heterozygous Variants of TOE1 in a Boy with Micropenis, Developmental Delay, and Ataxia: The First Korean Case Report.
Ann Clin Lab Sci
; 53(5): 806-810, 2023 Sep.
Article
em En
| MEDLINE
| ID: mdl-37945020
Pontocerebellar hypoplasia (PCH) is a rare neurodegenerative disorder characterized by hypoplasia of the pons and cerebellum and global developmental delay. Among several PCH types, PCH7 is a characteristic type that manifests with not only brain lesions but also sexual developmental disorders. The causative gene, TOE1, encodes a protein involved in small ribonucleic acid maturation and processing. TOE1 mutation is associated with neuronal survival that causes hypoplasia of the cerebellum and pons. We report the case of a male patient with PCH7, developmental delay, ataxia, micropenis, and undescended testis. Genetic analysis revealed compound heterozygous missense variants (c.955C>T and c.533T>G) in the TOE1 gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Cerebelares
Limite:
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Ann Clin Lab Sci
Ano de publicação:
2023
Tipo de documento:
Article