Gorlin综合征:PTCH基因与眼部发育性缺陷及肿瘤形成相关

摘要

Aim: To identify a gene linking microphthalmia with cyst with early onset medu lloblastoma. Methods: Mutation analysis of the PTCH gene. Results: A mutation in exon 10 of the PTCH genewas identified, confirming a diagnosis ofGorlin syndrom e. Conclusions: This is the first genetically identified mutation giving rise to microphthalmiawith cyst and provides a valuable link in the eye developmental g ene pathway.