1例儿童静脉畸形骨肥大综合征的临床与基因突变分析

Clinical and genetic analysis of a child with klippel-trenaunay syndrome.

目的:探讨1例静脉畸形骨肥大综合征(KTS)患儿的临床表现及其分子生物学基础。方法:收集患者的临床资料、实验室检查结果,抽取外周静脉血,提取基因组DNA,聚合酶链反应,测序确定突变情况。结果:患者临床表现、实验室检查符合KTS诊断。基因突变分析显示,患者AGGF1基因第6号外显子发生错义突变,为c.923A>G杂合突变,造成第923位氨基酸由天冬酰胺改变为丝氨酸。蛋白序列的保守性分析及突变蛋白的功能分析,均支持该突变为致病突变。结论:通过临床及实验室检查,确诊1例KTS患者,通过AGGF1基因突变分析,从分子遗传学方面证实患者KTS的诊断。

Objective：To investigate the clinical manifestations and molecular basis of a child with Klippel - Trenaunay syndrome （KTS）. Methods：Clinical features, and laboratory data were collected. Genomic DNA was extracted from leukocytes of peripheral blood of the patient, detected by polymerase chain reaction, and the mutations identified by direct sequencing. Resuits ： KTS was diagnosed on the basis of comprehensive consideration of clinical presentations, and laboratory test results. This gene mutation test revealed a nucleotide substitution of guanine for adenine at the position 923 of exon 6 of AGGF1 gene （ c. 923A 〉 G） ,which caused a missense mutation of asparagine to serine at codon 923 （p. Asn923Ser）. Loci conservation analysis and functional prediction of missense mutation of AGGF1 protein revealed that c. 923A 〉 G was a pathogenic mutation. Conclu- sion：One case of KTS was diagnosed by clinical and laboratory examinations. From the aspect of molecular genetics, AGGF1 gene mustation has confirmed the diagnosis of KTS in this patient.