SCIENTIFIC REPORT Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation
نویسندگان
چکیده
Aim: To identify a gene linking microphthalmia with cyst with early onset medulloblastoma. Methods: Mutation analysis of the PTCH gene. Results: A mutation in exon 10 of the PTCH gene was identified, confirming a diagnosis of Gorlin syndrome. Conclusions: This is the first genetically identified mutation giving rise to microphthalmia with cyst and provides a valuable link in the eye developmental gene pathway.
منابع مشابه
Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.
AIM To identify a gene linking microphthalmia with cyst with early onset medulloblastoma. METHODS Mutation analysis of the PTCH gene. RESULTS A mutation in exon 10 of the PTCH gene was identified, confirming a diagnosis of Gorlin syndrome. CONCLUSIONS This is the first genetically identified mutation giving rise to microphthalmia with cyst and provides a valuable link in the eye developme...
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The nevoid basal cell carcinoma (Gorlin) syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple developmental defects and cancer susceptibility, in particular to basal cell carcinoma. The human homologue of Drosophila patched (PTCH) was recently identified, mapped to the NBCCS locus on chromosome 9q22.3, and found mutated in patients with NBCCS and also in sporadic basal c...
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