title: Novel mutations in the PATCHED gene in basal cell nevus syndrome.
abstract: Basal cell nevus syndrome (BCNS) is an autosomal dominant disease characterized by the presence of multiple basal cell carcinomas, odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused by mutational inactivation of the PTCH gene. To investigate the molecular basis of BCNS in Chinese, we did a mutational analysis of the PTCH gene by performing denaturing high-performance liquid chromatography in three BCNS families. In this study, three novel mutations, two 1-bp frameshift insertions, i.e., 1468insA and 2392insC, and one 8-bp deletion, i.e., IVS5 + 1delGTAAGTGT, affecting a donor splice site, were identified. All the mutations cause a shift of the open reading frames and lead to premature termination of PTCH protein translation. Our results showed that mutational inactivation of the PTCH gene causes BCNS in Chinese.
authors.affiliation: Department of Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA 02115, USA. ching-wanlam@cuhk.edu.hk
authors.forename: Ching-Wan
authors.initials: CW
authors.lastname: Lam
authors.forename: Chi-Yan
authors.initials: CY
authors.lastname: Leung
authors.forename: Kam-Cheong
authors.initials: KC
authors.lastname: Lee
authors.forename: Jingwu
authors.initials: J
authors.lastname: Xie
authors.forename: Fai-Man
authors.initials: FM
authors.lastname: Lo
authors.forename: Tak-Shing
authors.initials: TS
authors.lastname: Au
authors.forename: Sui-Fan
authors.initials: SF
authors.lastname: Tong
authors.forename: Miu-Kuen
authors.initials: MK
authors.lastname: Poon
authors.forename: Loi-Yuen
authors.initials: LY
authors.lastname: Chan
authors.forename: Nai-Ming
authors.initials: NM
authors.lastname: Luk
mesh_terms: D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002648:Child; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D016133:Polymerase Chain Reaction; D011956:Receptors, Cell Surface; D017384:Sequence Deletion
chemical_list: D008565:Membrane Proteins; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface