FOXG1相关综合征3例患儿临床及基因检测结果分析

doi:10.12372/jcp.2024.23e1074

临床儿科杂志 ›› 2024, Vol. 42 ›› Issue (9): 805-810.doi: 10.12372/jcp.2024.23e1074

FOXG1相关综合征3例患儿临床及基因检测结果分析

孙殿荣¹, 王岩艳², 李加山³, 张雷红¹, 候梅¹()

1.青岛大学附属妇女儿童医院儿童康复中心（山东青岛 266011）
2.青岛大学附属妇女儿童医院儿保科（山东青岛 266011）
3.青岛大学附属妇女儿童医院遗传科（山东青岛 266011）

收稿日期:2023-11-07 出版日期:2024-09-15 发布日期:2024-09-04
通讯作者: 候梅电子信箱：qdhoum@163.com
基金资助:
青岛市出生缺陷与罕见病临床医学研究中心项目(22-3-7-1czx-1-nsh);青岛市医药卫生科研计划(2021-WJZD130);国家临床重点专科建设项目-儿科学(XKRC-012)

Analysis of clinical and genetic detection results of 3 children with FOXG1-related syndrome

SUN Dianrong¹, WANG Yanyan², LI Jiashan³, ZHANG Leihong¹, HOU Mei¹()

1. Department of Children Rehabilitation, Women and Children's Hospital Affiliated to Qingdao University, Qingdao 266011, Shandong, China
2. Department of Children Healthcare, Women and Children's Hospital Affiliated to Qingdao University, Qingdao 266011, Shandong, China
3. Department of Children Genetics, Women and Children's Hospital Affiliated to Qingdao University, Qingdao 266011, Shandong, China

Received:2023-11-07 Online:2024-09-15 Published:2024-09-04

摘要/Abstract

摘要：

目的分析FOXG1相关综合征的临床表型与基因型特点。方法回顾性分析2018年1月至2022年1月收治的FOXG1相关综合征患儿的临床资料及遗传学检测结果。结果纳入3例FOXG1相关综合征患儿，均为男性，生后起病，均有早发性运动障碍、全面性发育迟缓、产后小头畸形的表现。全外显子组测序发现3例患儿均具有FOXG1基因致病性变异。颅脑磁共振成像（MRI）特点为额叶皮层和/或胼胝体发育不良或髓鞘化延迟。例1为FOXG1基因N-末端结构域位点c.256dupC（p.Gln86Profs*35）移码突变，例2为FOXG1基因叉头结合域c.595G>T（p.Glu199*）无义突变，例3为FOXG1基因JARID1B结合域c.1178C>A（p.S393*）无义突变，例3临床表型和脑部异常改变轻于其他2例患儿。其中例2和例3患儿的突变之前未见文献报道，扩展了该疾病的基因变异谱。结论对于有早发性运动障碍、发育迟缓、小头畸形和特异性颅脑影像学表现的个体，应考虑FOXG1基因变异的可能。

关键词: FOXG1基因, 运动障碍, 发育迟缓, 小头畸形

Abstract:

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

孙殿荣, 王岩艳, 李加山, 张雷红, 候梅. FOXG1相关综合征3例患儿临床及基因检测结果分析[J]. 临床儿科杂志, 2024, 42(9): 805-810.

SUN Dianrong, WANG Yanyan, LI Jiashan, ZHANG Leihong, HOU Mei. Analysis of clinical and genetic detection results of 3 children with FOXG1-related syndrome[J]. Journal of Clinical Pediatrics, 2024, 42(9): 805-810.

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参考文献 19

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FOXG1相关综合征3例患儿临床及基因检测结果分析

Analysis of clinical and genetic detection results of 3 children with FOXG1-related syndrome

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