AUTHOR=Lang Xiaoqing , Wang Ting , Guo Shuping , Dang Yao , Zhang Yingjie , Liu Hongye , He Hongxia , Li Li , Yuan Huajie , He Ting , Wang Qiong , Qin Shiyu , Cheng Runping , Yan Xingquan , Cui Hongzhou 

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

JOURNAL=Frontiers in Medicine

VOLUME=11

YEAR=2024

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2024.1327505

DOI=10.3389/fmed.2024.1327505

ISSN=2296-858X

ABSTRACT=<p>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.</p>