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

共 50 条

[1] A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome
Durmaz, Ceren D.
Evans, Gareth
Smith, Miriam J.
Ertop, Pelin
Akay, Bengu N.
Tuncali, Timur
CYTOGENETIC AND GENOME RESEARCH, 2018, 154 (02) : 57 - 61
[2] A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome
Honma, Masaru
Ohishi, Yasushi
Uehara, Jiro
Ibe, Masaki
Kinouchi, Motoshi
Ishida-Yamamoto, Akemi
Iizuka, Hajime
JOURNAL OF DERMATOLOGICAL SCIENCE, 2008, 50 (01) : 73 - 75
[3] Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome
Sim, Yookyeong Carolyn
Kim, Gu-Hwan
Choi, Sung-Weon
Ahn, Kang-Min
JOURNAL OF CRANIOFACIAL SURGERY, 2018, 29 (03) : E252 - E255
[4] A novel missense mutation in the PTCH1 gene in a premature case of nevoid basal cell carcinoma syndrome
Nakamura, Motonobu
Tokura, Yoshiki
EUROPEAN JOURNAL OF DERMATOLOGY, 2009, 19 (03) : 262 - 263
[5] A novel nonsense PTCH1 mutation in a Chinese family with nevoid basal cell carcinoma syndrome
Jiang, W.
Gao, D.
Huang, E.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2014, 134 : S77 - S77
[6] A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome
Zhou, Junfeng
Zhang, Guiying
Shi, Meng
Liu, Zhisheng
Xiao, Manyi
Fu, Siqi
Gong, Xiaoyan
Shi, Xiaoliu
MEDICAL MOLECULAR MORPHOLOGY, 2019, 52 (04) : 235 - 237
[7] A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome
Junfeng Zhou
Guiying Zhang
Meng Shi
Zhisheng Liu
Manyi Xiao
Siqi Fu
Xiaoyan Gong
Xiaoliu Shi
Medical Molecular Morphology, 2019, 52 : 235 - 237
[8] A novel PTCH1 germline mutation in Saudi patient with nevoid basal cell carcinoma syndrome
Abu-Amero, Khaled
Hellani, A.
Dabbour, N.
JOURNAL OF MEDICAL GENETICS, 2008, 45 : S68 - S68
[9] Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation
Rodrigues, A. L.
Carvalho, A.
Cabral, R.
Carneiro, V.
Gilardi, P.
Duarte, C. P.
Puente-Prieto, J.
Santos, P.
Mota-Vieira, L.
GENETICS AND MOLECULAR RESEARCH, 2014, 13 (03): : 5654 - 5663
[10] Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome
Yoji Nakase
Atsuko Hamada
Naoya Kitamura
Tsuyoshi Hata
Shigeaki Toratani
Tetsuya Yamamoto
Tetsuji Okamoto
Human Genome Variation, 7

← 1 2 3 4 5 →