Seizure · 2025
Comparative analysis of clinical phenotypes and genetic characteristics in MEF2C-associated neurodevelopmental disorders.
СтатьяСравнительное исследованиеНазвание и аннотация: Перевод в очереди
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Li Xin, Ma Jia-Jun, Meng Lin-Xue, Han Zi-Yao, Li Qin-Lan, Yang Xiao-Yue, Xie Ling-Ling, Jiang Li
Аннотация
BACKGROUND: Myocyte enhancer factor 2C (MEF2C) is among the important genes associated with neurodevelopmental disorders (NDDs). The phenotypic distinctions between MEF2C pathogenic variants and 5q14.3 microdeletions remain unclear.
METHODS: We retrospectively collected the information of patients from our centre between May 2019 and October 2024 and identified them as having MEF2C mutations by whole-exome sequencing (WES). We searched the literature related to MEF2C mutations and 5q14.3 microdeletions and summarized the clinical features and genetic characteristics of the patients.
RESULTS: Five patients with MEF2C mutations were identified from our hospital, and 34 articles were selected for analysis. Data from 62 MEF2C-associated copy number variations (CNVs) and 42 MEF2C mutations were analysed. We found that regression was more common in the mutation group (21.6 %, 8/37) than in the CNV group (2.0 %, 1/51; P = 0.008). Patients with mutations in MEF2C were more likely to present with a history of febrile seizures (45.2 % vs. 25.8 %, P = 0.040) and autistic traits (91.9 % vs. 74.5 %, P = 0.037). Myoclonic seizures (29.4 % vs. 70.6 %, P = 0.025), infantile epileptic spasm syndrome (3.3 % vs. 31.8 %, P = 0.018), refractory epilepsy (11.1 % vs. 47.8 %, P = 0.012), diffuse epileptiform discharges from electroencephalograms (15.0 % vs. 42.9 %, P = 0.2) and abnormal corpus callosum (23.1 % vs. 55.9, P = 0.06) may occur more often in the CNV group.
CONCLUSION: Patients with CNVs presented a higher prevalence of refractory epilepsy and vascular malformations, whereas those with point mutations more frequently presented with developmental regression, febrile seizure history and autistic traits. These genotype-phenotype correlations could inform genetic testing strategies.
METHODS: We retrospectively collected the information of patients from our centre between May 2019 and October 2024 and identified them as having MEF2C mutations by whole-exome sequencing (WES). We searched the literature related to MEF2C mutations and 5q14.3 microdeletions and summarized the clinical features and genetic characteristics of the patients.
RESULTS: Five patients with MEF2C mutations were identified from our hospital, and 34 articles were selected for analysis. Data from 62 MEF2C-associated copy number variations (CNVs) and 42 MEF2C mutations were analysed. We found that regression was more common in the mutation group (21.6 %, 8/37) than in the CNV group (2.0 %, 1/51; P = 0.008). Patients with mutations in MEF2C were more likely to present with a history of febrile seizures (45.2 % vs. 25.8 %, P = 0.040) and autistic traits (91.9 % vs. 74.5 %, P = 0.037). Myoclonic seizures (29.4 % vs. 70.6 %, P = 0.025), infantile epileptic spasm syndrome (3.3 % vs. 31.8 %, P = 0.018), refractory epilepsy (11.1 % vs. 47.8 %, P = 0.012), diffuse epileptiform discharges from electroencephalograms (15.0 % vs. 42.9 %, P = 0.2) and abnormal corpus callosum (23.1 % vs. 55.9, P = 0.06) may occur more often in the CNV group.
CONCLUSION: Patients with CNVs presented a higher prevalence of refractory epilepsy and vascular malformations, whereas those with point mutations more frequently presented with developmental regression, febrile seizure history and autistic traits. These genotype-phenotype correlations could inform genetic testing strategies.