Clinical characteristics and genetic analysis of nevoid basal cell carcinoma syndrome with epilepsy
10.3969/j.issn.1674-8115.2018.11.009
- Author:
Gai-Ling LIU
1
Author Information
1. Department of Neurology, The First Affiliated Hospital of Zhejiang University School of Medicine
- Publication Type:Journal Article
- Keywords:
Epilepsy;
Mutation;
Nevoid basal cell carcinoma syndrome;
PTCH gene
- From:
Journal of Shanghai Jiaotong University(Medical Science)
2018;38(11):1322-1326
- CountryChina
- Language:Chinese
-
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.
