Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.
OBJECTIVE
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.
Ragge
N K
NK
Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK. nicky.ragge@anat.ox.ac.uk
Salt
A
A
Collin
J R O
JR
Michalski
A
A
Farndon
P A
PA
D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D001483:Base Sequence; D002528:Cerebellar Neoplasms / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008527:Medulloblastoma / Q000235:genetics*; D008850:Microphthalmos / Q000235:genetics*; D008969:Molecular Sequence Data; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*; D017384:Sequence Deletion
C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface