title: New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome.
abstract: Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, congenital hydrocephalus, intracranial neoplasms, and mental retardation. A few cases of epilepsy with nevoid basal-cell carcinoma syndrome were reported. We report on a patient with nevoid basal-cell carcinoma syndrome and West syndrome. The patient had a heterozygous mutation (insertion of TGGC) in the PTCH gene. This mutation causes a shift of the reading frame, and creates a stop codon predicting the truncation of the PTCH protein. This mutation was not found in previously described patients with nevoid basal-cell carcinoma syndrome.
authors.affiliation: School of Health Sciences, Sapporo Medical University, Sapporo, Japan. tati@sapmed.ac.jp
authors.forename: Nobutada
authors.initials: N
authors.lastname: Tachi
authors.forename: Katsunori
authors.initials: K
authors.lastname: Fujii
authors.forename: Mitsugu
authors.initials: M
authors.lastname: Kimura
authors.forename: Kouhei
authors.initials: K
authors.lastname: Seki
authors.forename: Masahisa
authors.initials: M
authors.lastname: Hirakai
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Miyashita
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000235:genetics*; D001932:Brain Neoplasms / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*; D013036:Spasms, Infantile / Q000150:complications / Q000235:genetics*
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface