›› 2018, Vol. 38 ›› Issue (11): 1322-.doi: 10.3969/j.issn.1674-8115.2018.11.009

• Original article (Clinical research) • Previous Articles     Next Articles

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   

  1. 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:2018-11-28 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

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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.

Key words: nevoid basal cell carcinoma syndrome, PTCH gene, mutation, epilepsy

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