一例14q12三倍重复及FOXG1基因相关疾病分析

Report of a case with 14q12 triplication and literature review for FOXGl-related diseases

目的报告1例包含FOXG1基因的14q12三倍重复病例，对FOXGI基因相关疾病的临床及分子生物学特征进行探讨。方法分析1例包含FDx口基因的14q12三倍重复患儿的临床表现和微阵列比较基因组杂交（array-based comparative genomic hybridization，aCGH）结果；并分析FOXG1相关疾病基因型与临床表型特点。结果女性患儿，9岁，以严重的精神运动发育落后、婴儿痉挛症、重度智力低下、语言缺乏、孤独症谱系障碍、步态异常、手功能障碍及小头畸形等为主要表现，头颅磁共振检查提示灰质异位等改变。aCGH结果示患儿染色体14q12区域存在1．9Mb的三倍重复，包含FOXGl基因及一个预测基因C140rf23。结论对于有早发的严重精神运动发育落后、癫痫、小头畸形、严重认知运动障碍及脑发育不良等异常的患者可行FOXG1基因拷贝数变异分析或突变检测以明确诊断。

Objective To report on the first case with chromosome 14q12 triplication involving the FOXG1 gene. Methods The clinical, radiological and array-based comparative genomic hybridization （aCGH） data of a patient was analyzed, in addition with a literature review. Results The 9-year-old girl has suffered from severe psychomotor delay, infantile spasms, severe mental retardation, absent language, autistic spectrum disorders, impaired ambulation, poor functional hand use and microcephaly, which were considered as manifestation of FOXGl-related diseases. Magnetic resonance imaging has documented heterotopic gray matter changes, aCGH showed a 1.9 Mb triplication in the 14q12 region, which involved the FOXG1 and a predicted gene C14orf23. Conclusion For patients with early-onset severe psychomotor retardation, epilepsy, microcephaly, severe cognitive impairment and encephalodysplasia, analysis of copy number variations and mutations of the FOXG1 gene is crucial for the diagnosis.