常染色体显性遗传性桥粒芯糖蛋白1基因突变引起的局限性掌跖角化病

作     者：Milingou M. Wood P. Masouyé I. L. Borradori 罗素菊 徐波 

作者机构：Clinique de Dermatologie Hopital Cantonal Universitaire Rue Micheli- du- Crest 24 CH- 1211 Gen` eve Switzerland 

出 版 物：《世界核心医学期刊文摘（皮肤病学分册）》 (Digest of the World Core Medical JOurnals:Dermatology)

年 卷 期：2006年第2卷第4期

页      面：45-45页

学科分类：1002[医学-临床医学] 100206[医学-皮肤病与性病学] 10[医学] 

主　　题：桥粒芯糖蛋白 基因突变 掌跖角化病 过度角化 条纹状 甲营养不良 碱基插入 外伤部位 基因分析 基因 

摘      要：Background: Palmoplantar keratodermas (PPK) encompass a large genetically heterogeneous group of diseases associated with hyperkeratosis of the soles andor palms that occur either isolated or in association with other cutaneous and extracutaneous manifestations. Pathogenic mutations in the desmoglein 1 gene (DSG1) have recently been identified in a subset of patients with the striate type of PPK. Observation: We have identified a patient with a focal non- striated form of PPK associated with discrete troubles of keratinisation at sites exposed to mechanical trauma, such as the knees, ankles or finger knuckles, and with mild nail dystrophy. Genetic analyses disclosed a novel dominantly inherited heterozygous single base insertion in exon 3 of DSG1, 121insT, leading to a premature termination codon. The mutation was also present in the father and in a sister. Conclusion: Our observation extends the spectrum of clinical features associated with genetic defects in DSG1 and provides further evidence that perturbation of desmoglein 1 expression has a critical impact on the integrity of tissues experiencing strong mechanical stress.