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 ShiEmail author
Case Report


Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the development of multiple jaw keratocysts and basal cell carcinomas (BCC) and accompanied by diverse phenotypes. The establishment of diagnosis lies on the identification of a heterozygous germline pathogenic variant in the patched homolog 1 gene (PTCH1). PTCH1 has alternative splicing and selective initial coding exon, leading to three types of encoding proteins (PTCHL, PTCHM and PTCHS). The expression of each protein in NBCCS remains ambiguous, especially the importance of the first two exons in translation. Here, we report a Chinese NBCCS family of a novel PTCH1 heterozygous mutation (IVS 2, c.394+1G>T, g.10652G>T) identified by genomic sequencing and reverse-transcription-PCR as aberrant splicing. To the best of our knowledge, this is the first report of NBCCS with a splicing site mutation in intron 2 resulting in exon 2 skipping. Our finding suggests that exon 2 plays an important role in the development of NBCCS and further speculates that the role of longer isoforms PTCHL and PTCHM is crucial in NBCCS, while that of short isoform PTCHS might be dispensable.


Nevoid basal cell carcinoma syndrome PTCH1 gene Novel mutation Aberrant splicing Exon skipping 



We thank all the subjects for participating in this study.

Compliance with ethical standards

Conflict of interest

The authors declare no conflict of interest.


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Copyright information

© The Japanese Society for Clinical Molecular Morphology 2019

Authors and Affiliations

  1. 1.Department of Medical Genetics, The Second Xiangya HospitalCentral South UniversityChangshaChina
  2. 2.Department of Gastroenterology, The Second Xiangya HospitalCentral South UniversityChangshaChina
  3. 3.Department of Dermatology, The Second Xiangya HospitalCentral South UniversityChangshaChina
  4. 4.Department of Ophthalmology, The Second Xiangya HospitalCentral South UniversityChangshaChina

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