Journal of Clinical Pediatrics >
Analysis of clinical and genetic detection results of 3 children with FOXG1-related syndrome
Received date: 2023-11-07
Online published: 2024-09-04
Objective To investigate the clinical phenotypic and genotypic features of FOXG1-related syndrome. Methods The clinical data and genetic test results of 3 children with FOXG1-related syndrome treated in our hospital from January 2018 to January 2022 were analyzed retrospectively. Results Three children with FOXG1-related syndrome were included, all male, with postnatal onset. All the patients had early-onset dyskinesia, global developmental delay and microcephaly. Whole exome sequencing showed that all 3 patients had the pathogenic variation of FOXG1 gene. Brain magnetic resonance imaging (MRI) was characterized by hypoplasia of the frontal cortex and/or corpus callosum or delayed myelination. Case 1 had a frameshift mutation of c.256dupC (p.Gln86Profs*35) at the N-terminal domain site in the FOXG1 gene, and case 2 had a nonsense mutation of c.595G>T (p.Glu199*) in the fork-head binding domain of FOXG1 gene. A nonsense of c.1178C>A (p.S393*) was found in the JARID1B binding domain of FOXG1 gene in case 3. Case 3 had a milder clinical phenotype and brain abnormalities than the other 2 patients. The variations of cases 2 and 3 had not been previously reported in the literature, which expanded the gene spectrum of the disease. Conclusions FOXG1 variation should be considered for individuals with early-onset dyskinesia, developmental delay, microcephaly and characteristic brain imaging lesions.
Key words： FOXG1gene; movement disorder; developmental delay; microcephaly
Dianrong SUN , Yanyan WANG , Jiashan LI , Leihong ZHANG , Mei HOU . Analysis of clinical and genetic detection results of 3 children with FOXG1-related syndrome[J]. Journal of Clinical Pediatrics, 2024 , 42(9) : 805 -810 . DOI: 10.12372/jcp.2024.23e1074
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