engleski

New Croatian PTCH Mutation in Gorlin Syndrome Family Linked To Craniopharyngioma

The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) or Gorlin syndrome is a rare autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), medulloblastomas, meningiomas, fibromas of the ovaries and heart ; cysts of the skin, jaws, and mesentery ; pits of the palms and soles ; diverse developmental abnormalities, often including rib and craniofacial alterations and less often, polydactyly, syndactyly, and spina bifida. The syndrome is caused by mutations in the human homolog of the Drosophila patched gene, PTCH. PTCH is a tumor supressor gene, located at 9q22.3, and encodes a transmembrane glycoprotein that acts as an antagonist in the Hedgehog signaling pathway. It has 12-transmembrane domains, two large extracellular loops involved in ligand binding, one large intracellular loop and intracellular N- and C-termini. We report a family case with features of widespread basocellular tumors and craniophacial and bone malformations but also with unusual appearance of craniopharyngioma. In this family we found by SSCP, dHPLC and direct sequencing a novel mutation of PTCH gene. Immunohistochemistry analyses demonstrated specific aberration of PTCH. Our finding provide additional evidence of craniopharyngioma involvement in the pathogenesis of Gorlin syndrome.

Gorlin Syndrome ; PTCH Mutation ; Craniopharyngioma

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