Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Basal Cell Nevus Syndrome / genetics*
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Base Sequence
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Cerebellar Neoplasms / genetics*
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Child, Preschool
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DNA Mutational Analysis
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Female
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Humans
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Medulloblastoma / genetics*
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Microphthalmos / genetics*
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Molecular Sequence Data
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Patched Receptors
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Patched-1 Receptor
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Receptors, Cell Surface / genetics*
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Sequence Deletion
Substances
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PTCH1 protein, human
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Patched Receptors
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Patched-1 Receptor
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Receptors, Cell Surface