摘要
目的本报道介绍了1例FBN1基因杂合突变所导致的Geleophysic发育不良2型(Geleophysic dysplasia type 2),旨在探讨GD的临床特征,以期为该疾病患儿的早发现、及早诊断并尽早地治疗提供参考。方法总结并分析了患儿的临床特征、影像学等相关检查及基因检测等。结果12岁维吾尔族男患,因身材矮小复诊,其主要特征为身材矮小、四肢短小、具有特殊面容、肝脏进行性肿大和骨骼发育不全。基因检测结果提示FBN1杂合突变。结论本个案报道了1例FBN1基因杂合突变所致的GD2维吾尔族患儿,丰富了相关疾病的基因库,诊断该病后需要多学科多方面密切监测并随访患儿的病情及转归。
Objective To present a case of Geleophysic dysplasia type 2(GD2)resulted from a heterozygous mutation in the FBN1 gene,and to discuss the clinical characteristics of GD,so as to provide a basis for early detection,early diagnosis and symptomatic treatment of children with GD.Methods We summarized the clinical phenotypes,laboratory tests,and genetic test results of the children.Results A 12-year-old Uyghur male patient with“short stature for more than 6 years”returned to the clinic with short stature,short limbs,peculiar facial features,progressive enlargement of the liver,and skeletal hypoplasia.Genetic testing revealed a heterozygous mutation in FBN1 with a nucleotide change of c.5284G>A(guanine>adenine)and an amino acid change of p.Gly1762Ser(glycine>serine).Conclusion This case reports a case of a Uyghur child with GD2 due to heterozygous mutation in the FBN1 gene,which enriches the gene pool of related disorders,and the diagnosis of the disease requires close multidisciplinary and multifaceted monitoring and follow-up of the child’s condition and regression.
作者
买地娜·马合木提
米热古丽·买买提
MAHEMUTI Madina;MAIMAITI Mireguli(School of Pediatrics,Xinjiang Medical University,Urumqi,Xinjiang 830054,China;Department 4 of Pediatrics,Pediatric Center,the First Affiliated Hospital of Xinjiang Medical University,Urumqi,Xinjiang 830054,China)
出处
《中国优生与遗传杂志》
2025年第3期665-668,共4页
Chinese Journal of Birth Health & Heredity
基金
卫生健康发展促进项目-生长激素生物活性检测支持科研项目(KM-SZJS-01)。
