Greig Cephalopolysyndactyly Syndrome

Greig Cephalopolysyndactyly Syndrome Akpene Gbegnon, MS4 Department of Pathology June 5 th , 2008

Outline ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Greig Cephalopolysyndactyly Syndrome (GCPS) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Cases of Greig Syndrome ,[object Object],[object Object],[object Object],[object Object]

Genetic Abnormalities Found in Greig Syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object]

GLI3 is a gene on chromosome 7p13 that is mutated in Greig syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

What is GLI3? ,[object Object],[object Object],[object Object],[object Object],[object Object]

Is there an association between GLI3 and limb development? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Mouse Model of Greig Syndrome ,[object Object],[object Object],[object Object],In situ hybridization analysis of GLI3 transcript in developing limb. Idm = interdigital mesenchyme Izm = interzonal mesenchyme

Mouse Model of Greig Syndrome ,[object Object],[object Object],[object Object],In situ hybridization analysis of GLI3 transcript in developing head and limb Nt = neural tube Hlb = hindlimb bud.

Mouse Model of Greig Syndrome ( Litingtung et al., 2002; Welscher et al., 2002) ,[object Object],Skeleton morphology

GLI3 and limb development (Lallemand et al, 2006) ,[object Object]

Brain ,[object Object],[object Object]

Tumor is present in the cerebellum ,[object Object],[object Object],[object Object],[object Object],[object Object],Left Right

FS of brain tumor showing Pilocytic Astrocytoma ,[object Object],[object Object],[object Object]

Is there an association between Greig syndrome and tumors? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Homer-wright rosettes Medulloblastoma, WHO grade IV Tumor of the cerebellum Dense cellularity Circular arrangement of cells in rosettes Small blue cell tumor

GLI3, Shh, and medulloblastomas ,[object Object],[object Object],[object Object]

GLI3 and Sonic Hedgehog (Shh) ,[object Object],[object Object],[object Object],[object Object]

GLI3 and Sonic hedge hog ,[object Object],[object Object],[object Object]

The relationship between GLI3 and Shh (Robert et al, 2006) ,[object Object]

Is GLI3 involved in medulloblastomas? ,[object Object],[object Object],[object Object]

Is GLI3 involved in medulloblastomas? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Is GLI3 involved in medulloblastomas? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Summary ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

References ,[object Object],[object Object],[object Object],[object Object]

Acknowledgement ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

What happens when you knockout Shh? ,[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],What happens if you have a Shh:Gli3 double knock-out?

Greig Syndrome and Acute Lymphoblastic Leukemia ,[object Object],[object Object]

Greig Syndrome and Acute Lymphoblastic Leukemia ,[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],[object Object],Patient with Greig syndrome and ALL has chromosome deletion that includes both GLI3 and ZNFNIAI ,[object Object],[object Object],Present 26% Absent 74%

[object Object],[object Object],Patient with Greig syndrome and ALL has chromosome deletion that includes both GLI3 and ZNFNIAI

The story of Sonic hedgehog ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

The story of Sonic Hedgehog ,[object Object],[object Object],[object Object]

The story of Sonic Hedgehog ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

The story of Sonic Hedgehog ,[object Object],[object Object],[object Object],[object Object]

Greig Cephalopolysyndactyly Syndrome

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Greig Cephalopolysyndactyly Syndrome