Case report: A novel PTCH1 frameshift mutation leading to nevoid basal cell carcinoma syndrome

被引：0

作者：

Lang, Xiaoqing ^{[1
]}

Wang, Ting ^{[2
]}

Guo, Shuping ^{[1
]}

Dang, Yao ^{[1
]}

Zhang, Yingjie ^{[1
]}

Liu, Hongye ^{[1
]}

He, Hongxia ^{[1
]}

Li, Li ^{[1
]}

Yuan, Huajie ^{[1
]}

He, Ting ^{[1
]}

Wang, Qiong ^{[1
]}

Qin, Shiyu ^{[3
]}

Cheng, Runping ^{[1
]}

Yan, Xingquan ^{[1
]}

Cui, Hongzhou ^{[1
]}

机构：

[1] Shanxi Med Univ, Dept Dermatol, Hosp 1, Taiyuan, Peoples R China

[2] Shanxi Univ Tradit Chinese Med, Affiliated Hosp, Dept Dermatol, Taiyuan, Peoples R China

[3] Shanxi Med Univ, Dept Nursing, Fenyang Coll, Fenyang, Peoples R China

来源：

FRONTIERS IN MEDICINE | 2024年 / 11卷

关键词：

novel; frameshift mutation; nevoid basal cell carcinoma syndrome; PTCH1; case report; GENE;

D O I：

10.3389/fmed.2024.1327505

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A patient presenting with several basal cell carcinomas, pigmented nevi, and developmental defects was diagnosed with nevoid basal cell carcinoma syndrome. Gene panel sequencing and Sanger sequencing were used to identify a novel heterozygous frameshift mutation, c.1312dupA:p.Ser438Lysfs, in exon 9 of PTCH1. I-Tasser and PyMol analyses indicated that the mutated protein patched homolog 1 (PTCH1) lacked 12 transmembrane domains and the intracellular and extracellular rings of ECD2 compared with the wild-type protein, resulting in a remarkably different structure from that of the wild-type protein. This case extends our knowledge of the mutation spectrum of NBCCS.

引用

页数：5

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