1例LRIG2基因变异致Urofacial综合征的遗传学分析  

Urofacial syndrome caused by mutation of LRIG2 gene:A case report

作　　者：刘静[1] 汪荣 杨波 马立燕[1] LIU Jing;WANG Rong;YANG Bo;MA Liyan(General Hospital of Ningxia Medical University,Yinchuan,Ningxia 750004,China;Lingwu People's Hospital,Yinchuan,Ningxia 750004,China)

机构地区：[1]宁夏医科大学总医院,宁夏银川750004 [2]灵武市人民医院,宁夏银川750004

出　　处：《中国优生与遗传杂志》2024年第12期2608-2610,共3页Chinese Journal of Birth Health & Heredity

基　　金：宁夏自然科学基金(2023AAC03626)。

摘　　要：目的探讨1例富含亮氨酸重复序列免疫球蛋白样蛋白(LRIG2)基因变异致Urofacial综合征(UFS)患儿的遗传学病因。方法以2023年就诊于宁夏医科大学总医院的1例疑似UFS的患儿为研究对象,行全外显子组测序,染色体畸变检测进一步验证确诊。结果患儿表现为体型消瘦,贫血貌,自幼夜间不自主排尿,肾功能不全。全外显子基因检测提示,染色体畸变检测进一步验证LRIG2基因杂合变异c.967C>G(p.L323V)为致病变异,确诊为UFS。结论LRIG2基因c.967C>G(p.L323V)杂合变异为患儿的遗传学病因。临床上面部表情异常、遗尿伴肾功能不全患儿,进行基因检测确诊。Objective To investigate the genetic etiology of a child patient with Urofacial syndrome(UFS)caused by mutations in LRIG2 gene.Methods A child patient received by the General Hospital of Ningxia Medical University in 2023 was selected for this study,who was suspected of UFS.Whole exome sequencing(WES)and chromosome aberration test were further conducted to confirm the clinical diagnosis.Results The patient presented emaciation,anemia,involuntary urination during the night since childhood and renal insufficiency.WES analysis identified a UFS causal variant c.967C>G(p.L323V)in LRIG2 gene,and this variant was further validated by the chromosome aberration test.Thus,the diagnosis of UFS was confirmed.Conclusion The heterozygous mutation c.967C>G(p.L323V)in LRIG2 gene causes UFS in the patient.The diagnosis based on clinical symptoms of the patient,including abnormal facial expression,enuresis and renal insufficiency,was confirmed by genetic analysis.

关 键 词：Urofacial综合征 富含亮氨酸重复序列免疫球蛋白样蛋白 杂合突变 遗尿 肾功能不全 

分 类 号：R725.9[医药卫生—儿科]