Gorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by genetic variants in PTCH1, SUFU, or PTCH2 genes. It is characterized by multiple basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and predisposition to neoplasms. A novel splice-site variant in the PTCH1 gene, c.3549+1G>T classified as pathogenic, was identified in a patient with a phenotype compatible with GS (multiple basal cell carcinomas and skeletal malformations). This case contributes to expand the spectrum of identified variants in Gorlin syndrome increasing knowledge about molecular bases and the diagnosis approach of this syndrome.

中文翻译：

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PTCH1 基因 c.3549+1G>T 中的一种新型致病性剪接位点变异，与 Gorlin 综合征相关：病例报告

Gorlin 综合征 (GS) 是一种罕见的遗传性疾病，以常染色体显性方式遗传，由 PTCH1、SUFU 或 PTCH2 基因的遗传变异引起。其特征是多发性基底细胞癌、牙源性角化囊肿、骨骼异常和肿瘤易感性。在一名表型与 GS（多发性基底细胞癌和骨骼畸形）兼容的患者中发现了 PTCH1 基因中的一个新剪接位点变异，c.3549+1G>T，被归类为致病性。该病例有助于扩大 Gorlin 综合征已识别变异的范围，增加对该综合征的分子基础和诊断方法的了解。