FGD1相关的Aarskog-Scott综合征1例并文献复习

FGD1-related Aarskog-Scott syndrome:a case report and literature review

患儿男,年龄2岁6个月,因“眼距宽,手指粗短,胸骨凹陷,隐睾,舌系带过短”于2023年6月就诊于青岛大学附属妇女儿童医院。收集临床资料后,通过全外显子组测序(WES)技术,探索可能存在的变异位点并进行生物信息学分析,通过Sanger测序进行家系验证。WES检测结果显示患儿位于X染色体的FGD1(Xq11.22)基因携带c.2432dupT移码半合子变异,导致编码蛋白多肽链合成提前终止(p.E812Gfs*36)。Sanger测序结果显示其母为c.2432dupT杂合变异携带者,其父该位点为野生型。依据美国医学遗传学与基因组学学会(ACMG)相关指南,该变异为致病性变异(ACMG:PVS+2PP)。该患儿确诊为Aarskog-Scott综合征(ASS)。本研究结果丰富了FGD1基因的变异谱,为临床ASS的筛查和诊断提供了依据。

A male child aged two years and six months was admitted to the Affiliated Women and Children′s Hospital of Qingdao University in June 2023 due to wide eye distance,stubby fingers,koilosternia,cryptorchidism,and short tongue frenum.After clinical data collection,whole exome sequencing(WES)was conducted and bio-informatics analysis was performed to search for possible mutation sites on the patient.Family lineage verifications were conducted through Sanger sequencing.WES results showed that the patient carried c.2432dupT frameshift hemizygote variation of the FGD1 gene on the X chromosome(Xq11.22).Sanger sequencing confirmed that the mother was a carrier of the c.2432dupT heterozygous variant but not the father.According to the sequence interpretation guidelines of the American College of Medical Genetics and Genomics(ACMG),this variant is pathogenic(ACMG:PVS+2PP).The patient was diagnosed with Aarskog-Scott syndrome(ASS),which is a rare X-linked disorder characterized by facial,skeletal and genital anomalies.This case study has enriched the variant spectrum of the FGD1 gene and provided guidance for clinical screening and diagnosis of ASS.