Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant manner and is characterized by a combination of developmental abnormalities and a predisposition to tumor formation. Hedgehog receptor Patched 1 (PTCH1) has been identified as the mutated gene in NBCCS. We identified the PTCH1_c.3298_3299insAAG_p.1099_1100insE mutation in the transmembrane region, which comprises a sterol transporter whose abnormal function is reportedly related to pathogenicity.

中文翻译：

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日本家族性空洞性基底细胞癌综合征的新型PTCH1突变

Nevoid基础细胞癌综合征（NBCCS），也称为Gorlin综合征，以常染色体显性遗传方式遗传，其特征是发育异常和易患肿瘤形成。刺猬受体补丁1（PTCH1）已被确定为NBCCS中的突变基因。我们鉴定出跨膜区域中的PTCH1_c.3298_3299insAAG_p.1099_1100insE突变，该突变包含据报道其异常功能与致病性相关的固醇转运蛋白。