Abstract：
UNASSIGNED: Gorlin syndrome, also known as basal cell nevus syndrome, is an autosomal dominant genetic disorder that predisposes humans to tumors. In most cases, this syndrome results from inactivating mutations in the patched homologue 1 gene. Basal cell carcinomas are one of the main characteristics of this syndrome and serve as a major diagnostic criterion. Gorlin syndrome shows a variable phenotype, and recently, other less common mutations in the suppressor of fused homologue or patched homologue 2 genes have been documented in individuals with this syndrome. We present the case of a patient with early-onset basal cell carcinomas and a mild Gorlin syndrome phenotype, attributed to a de novo patched homologue 2 variant of uncertain significance, which has not been previously reported in the literature.
摘要：
■戈林综合征,也被称为基底细胞痣综合征，是一种常染色体显性遗传疾病，使人类容易患肿瘤。在大多数情况下,这种综合征是由修补同源物1基因的失活突变引起的.基底细胞癌是该综合征的主要特征之一，并可作为主要的诊断标准。戈林综合征表现出可变的表型，最近,已在患有该综合征的个体中记录了融合同源物或修补同源物2基因抑制基因中其他较不常见的突变。我们介绍了患有早发性基底细胞癌和轻度Gorlin综合征表型的患者的情况。归因于意义不确定的从头修补同源2变体，以前在文献中没有报道过。
