摘要
目的收集1例Crouzon综合征男性患儿的临床资料及基因检测结果并进行分析,了解该病的典型特征及分子生物学特点,为临床诊治和科学研究提供依据。方法回顾分析Crouzon综合征患儿的临床资料,对患儿进行全外显子组基因检测,父母进行Sanger验证。结果患儿FGFR2基因的第10号染色体(chr10:123276899)的第8外显子1018位核苷酸由胸腺嘧啶(T)突变为胞嘧啶(C)(c.1018T>C,exon8),导致第340位氨基酸由酪氨酸(Tyr)突变为组氨酸(His)(p.Tyr340His,NM_000141.5),患儿父母均未检测出FGFR2基因突变位点。结论结合患儿典型的颅面特征、基因检测结果和国内外文献,证实p.Tyr340His为FGFR2基因的突变,可支持诊断Crouzon综合征。
Objective To collect and analyze the clinical data and genetic testing results of a male child with Crouzon syndrome,and to understand the typical characteristics and molecular biological characteristics of the disease,so as to provide a basis for clinical diagnosis,treatment and scientific research.Methods Clinical data of a child with Crouzon syndrome were retrospectively analyzed.Whole exome genetic testing was performed on the child,and Sanger validation was performed on the parents.Results The nucleotide at exon 8,position 1018 on chromosome 10(chr10:123276899)of the FGFR2 gene was mutated from thymine T to cytosine C(c.1018T>C,exon8),resulting in a change of amino acid 340 from tyrosine to histidine(p.Tyr340His,NM_000141.5)in the affected child,while the mutation of his parents was not detected.Conclusion Combined with the typical craniofacial features,gene detection results and domestic and foreign literature,it is confirmed that p.Tyr340His is a mutation of FGFR2 gene,which can support the diagnosis of Crouzon syndrome.
作者
吴亚棋
段世涛
闫宣池
杜淑豪
崔岚巍
WU Yaqi;DUAN Shitao;YAN Xuanchi;DU Shuhao;CUI Lanwei(The Second Ward of Department of Pediatrics,the Sixth Affiliated Hospital of Harbin Medical University,Harbin,Heilongjiang 150000,China)
出处
《中国优生与遗传杂志》
2024年第4期795-797,共3页
Chinese Journal of Birth Health & Heredity
