Original article (Clinical research)

Clinical characteristics and genetic analysis of nevoid basal cell carcinoma syndrome with epilepsy

  • LIU Gai-ling1 ,
  • 2 ,
  • TAO Kun3 ,
  • DU Ai-lian2 ,
  • LIU Xiao-li4 ,
  • LIANG Hui1
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  • 1. Department of Neurology, the First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310003, China; 2. Department of Neurology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200336, China; 3. Department of Pathology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200336, China; 4. Department of Neurology, Fengxian District Central Hospital, Shanghai 201406, China

Online published: 2018-12-15

Supported by

National Natural Science Foundation of China, 81200967; Shanghai Changning District Science and Technology Commission Foundation, CNKW2017Y02; Fund of Tongren Hospital, Shanghai Jiao Tong University School of Medicine, TRYJ201611

Abstract

Objective · To investigate the clinical and genetic characteristics of nevoid basal cell carcinoma syndrome (NBCCS) combined with epilepsy. Methods · The clinical data of a proband with the symptom of epileptic seizures in Department of Neurology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine was retrospectively analyzed. Facial nevoid was resected and hematoxylin-eosin (H-E) staining was examined. Wholeexome sequencing was performed on the blood DNA of the proband and his family members. Sanger sequencing was used for co-segregation analysis. Results · The proband was highly suspected of having NBCCS according to the clinical diagnostic criteria of NBCCS. H-E staining showed typical pathological features of basal cell carcinoma. Heterozygous deletion at c.3364_3365del base in the exon 20 of patched 1 (PTCH1) gene was found in this family. Conclusion · The heterozygous deletion in the exon 20 of PTCH1 gene (c.3364_3365del) may be a potential hot spot mutation for NBCCS, especially in patients combined with neurological manifestations, such as epilepsy.

Cite this article

LIU Gai-ling1 , 2 , TAO Kun3 , DU Ai-lian2 , LIU Xiao-li4 , LIANG Hui1 . Clinical characteristics and genetic analysis of nevoid basal cell carcinoma syndrome with epilepsy[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2018 , 38(11) : 1322 . DOI: 10.3969/j.issn.1674-8115.2018.11.009

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