Genomic coordinate 9:95,442,980
Here I present: “Basal Cell Nevus Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PTCH1) 基底細胞痣症候群。icd10=Q87.89
INTRODUCTION.
Basal cell nevus syndrome is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones).
Protein patched homolog-1 is a protein that is the member of the patched family and in humans is encoded by the PTCH1 gene.
Mutations of the PTCH1 gene have been associated with nevoid basal cell carcinoma syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly.
The PTCH1 gene is encoded on cytogenetic location 9q22.32 and genomic coordinate 9:95,442,980.
