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Clinical and genetic analysis in a patient with type 4 Aicardi-Goutières syndrome / 临床儿科杂志
Journal of Clinical Pediatrics ; (12): 134-137, 2018.
Article em Zh | WPRIM | ID: wpr-694653
Biblioteca responsável: WPRO
ABSTRACT
Objective To explore the clinical characteristics, imaging and genetic features of Type 4 Aicardi-Goutières syndrome (AGS). Methods The clinical data were collected, genetic changes were tested using next generation sequencing, and relevant literatures were reviewed. Results A 5 months old girl present with recurrent fever, intelligence and motor developmental delay, epilepsy, microcephaly, spasticity, cerebrospinal fluid pleocytosis. Brain MRI displayed cerebral atrophy and white matter lesions. Brain CT displayed intra-cranial multiple calcifications. Two missense mutations were identified in RNASEH2A,c.199G>C was a novel mutation,and c.322C>T was a known pathogenic mutation.Conclusions RNASEH2A gene mutations can lead to type 4 AGS.
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Texto completo: 1 Base de dados: WPRIM Tipo de estudo: Prognostic_studies Idioma: Zh Revista: Journal of Clinical Pediatrics Ano de publicação: 2018 Tipo de documento: Article
Texto completo: 1 Base de dados: WPRIM Tipo de estudo: Prognostic_studies Idioma: Zh Revista: Journal of Clinical Pediatrics Ano de publicação: 2018 Tipo de documento: Article