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Neurophenotype and genetic analysis of children with aicardi-goutières syndrome in China

儿科学研究(英文) 2024年第3期8卷 193-200页

作者： Zhang Shen Zhang Weihua Ding Changhong Ren Xiaotun Fang Fang Wu Yun Department of Neurology Beijing Children’s Hospital Capital Medical University National Center for Children’s Health Beijing China

Importance: aicardi-goutières syndrome (AGS) is a rare genetic disorder mainly affecting the central nervous system and autoimmunity. However, research on AGS among Chinese patients is ***: To summarize the neurologic phenotypes and genetic causes in pediatric AGS patients, providing insights for early recognition and diagnosis in the Chinese ***: Clinical features and neuroimaging results of the patients diagnosed with AGS from Beijing Children’s Hospital between January 2018 and January 2022 were collected. Whole exome sequencing was used for genetic ***: A total of 15 patients was included, all presenting with various neurological symptoms, including developmental delay (100%), motor skill impairment (100%), language disability (78.6%), dystonia (93.3%), microcephaly (73.3%), sleep disorders (26.7%), regression (20.0%), vessel disease (6.7%), and epilepsy (6.7%). Neuroimaging revealed intracranial calcification (86.7%), cerebral atrophy (73.3%), and leukodystrophy (73.3%). Seven genes were identified, withTREX1 being the most common (40.0%, 6/15), followed byIFIH1 (20.0%, 3/15). Variant c.294dupA (p.C99Mfs*3) was detected in four unrelated patients, accounting for 66.7% (4/6) patients with theTREX1 variant. A literature review showed thatTREX1 gene mutations in 35.6% (21/59) of AGS patients among the Chinese ***: Neurological symptoms are the most prevalent and severe presentation of AGS. Diagnosis may be considered when symptoms such as developmental delay, dystonia, microcephaly, brain calcification, and leukodystrophy ***1 mutations are predominant in the Chinese population.

关键词： aicardi-goutières syndrome Developmental delay Leukodystrophy Neurophenotype Whole exome sequencing

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Phenotypic Variability in a Family with aicardi-goutières syndrome Due to the Common A177T RNASEH2B Mutation

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Case Reports in Clinical Medicine 2014年第3期3卷 153-156页

作者： Victoria Tüngler Franziska Schmidt Steve Hieronimus Claudio Reyes-Velasco Min Ae Lee-Kirsch Department of Pediatrics Medizinische Fakultat Carl Gustav CarusTechnische Universitat DresdenDresdenGermany General Practice RatingenGermany

aicardi-goutières syndrome (AGS) is a rare inflammatory encephalopathy mimicking in utero acquired viral infection. Cardinal findings comprise leukodystrophy, basal ganglia calcifications and cerebral atrophy along with cerebrospinal fluid lymphocytosis and elevated interferon-α. In the majority of cases AGS is inherited as an autosomal recessive trait and caused by mutations in six genes including RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1 and ADAR1, all of which encode enzymes acting on nucleic acid species. Most patients present with first neurological signs in early infancy and experience severe global developmental delay. Here, we report on the unusual divergent phenotype of two siblings who both carry the most frequent AGS causing p.A177T (c.529G > A) RNASEH2B mutation in the homozygous state. While one sibling showed a typical AGS presentation with early onset and severe statomotor and mental impairment, the older sibling was intellectually completely normal. She was only diagnosed because of mild spasticity of the legs and serological signs of autoimmunity. These findings highlight the phenotypic variability of AGS and suggest that AGS may be underdiagnosed among children with mild cerebral palsy.

关键词： aicardi-goutières syndrome RNASEH2B Interferon-α Autoimmunity

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