New Mutation of the PTCH Gene in Nevoid Basal-Cell Carcinoma Syndrome With West Syndrome
Copyright policy )New Mutation of the PTCH Gene in Nevoid Basal-Cell Carcinoma Syndrome With West Syndrome
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.
- Sapporo Medical University Japan
- Chiba University Japan
- RMIT University Australia
Male, Patched Receptors, Brain Neoplasms, DNA Mutational Analysis, Infant, Basal Cell Nevus Syndrome, Receptors, Cell Surface, Patched-1 Receptor, Mutation, Humans, Spasms, Infantile
Male, Patched Receptors, Brain Neoplasms, DNA Mutational Analysis, Infant, Basal Cell Nevus Syndrome, Receptors, Cell Surface, Patched-1 Receptor, Mutation, Humans, Spasms, Infantile
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