SPRED1基因突变致Legius综合征1例  

Legius Syndrome Caused by SPRED1 Gene Mutation:A Case Report

作　　者：吴红巾 王申 李敏[1] 杨潇[1] 谢骏逸[1] 杨苏[1] WU Hongjin;WANG Shen;LI Min;YANG Xiao;XIE Junyi;YANG Su(Department of Dermatology,Children's Hospital of Nanjing Medical University,Nanjing 210008,China)

机构地区：[1]南京医科大学附属儿童医院,江苏南京210008

出　　处：《中国皮肤性病学杂志》2022年第4期454-456,共3页The Chinese Journal of Dermatovenereology

摘　　要：患儿女,4岁,躯干、腋窝、腹股沟散在褐色斑4年。患儿既往身健,母亲有类似皮损。基因检测显示患儿SPRED1基因第7号外显子发生c.995G>A杂合错义突变,导致氨基酸出现p.R332H改变,母亲该位点杂合变异,父亲该位点无变异。诊断:Legius综合征。A four-year-old girl presented with pigmented spots on her trunk,and on the axilla and groin.The girl was healthy,and the mother had similar clinical features with the child.A heterozygous missense mutation c.995 G>A(p.R332 H)in exon 7 of the SPRED1 gene was identified in the patient.This mutation was detected in the affected mother,but not in her father.The diagnosis of Legius syndrome was made.

关 键 词：Legius综合征 SPRED1基因 咖啡斑 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]