LEMD3基因突变导致Buschke-Ollendorff综合征1例  

Mutation Analysis of the LEMD3 Gene in a Patient with Buschke-Ollendorff Syndrome

作　　者：刘周亮 杨超 汪慧君 林志淼 LIU Zhouliang;YANG Chao;WANG Huijun;LIN Zhimiao(Dermatology Hospital,Southern Medical University,Guangzhou 510091,China)

机构地区：[1]南方医科大学皮肤病医院,广东广州510091

出　　处：《中国皮肤性病学杂志》2023年第11期1295-1297,共3页The Chinese Journal of Dermatovenereology

基　　金：国家自然科学基金项目(82073423,82003327)。

摘　　要：患儿男,3岁,全身多发皮下结节2年。皮损组织病理示:真皮胶原增粗,弹力纤维增生、粗大,伴黏蛋白沉积于真皮下,多灶(+)。基因检测:LEMD3基因(NM_014319.5)发生c.1323C>G杂合无义突变,导致编码蛋白第144位出现终止密码子(p.Tyr441*)。诊断:Buschke-Ollendorff综合征。A three-year-old boy presented with multiple subcutaneous nodules for 2 years. Skin histopathology showed increased thick collagen bundles and elevated coarse elastic fiber with multifocal mucin deposited in the dermis. Genetic testing revealed a heterozygous nonsense mutation c.1323C>G in the LEMD3 gene(NM_014319.5),which introduced a premature stop codon at amino acid 144(p.Tyr441*). The diagnosis was Buschke-Ollendorff syndrome.

关 键 词：Buschke-Ollendorff综合征 结缔组织痣 LEMD3基因突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]