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ea0025oc5.3 | Reproduction and fetal programming | SFEBES2011

Mutations in the gene encoding the fibroblast growth factor 8 (FGF8) are associated with complex midline defects including recessive holoprosencephaly and hypothalamo-pituitary dysfunction

McCabe Mark , Gaston-Massuet Carles , Tziaferi Vaitsa , Gregory Louise , Alatzoglou Kyriaki , Signore Massimo , Farooqi Sadaf , Raza Jamal , Walker Joanna , Kavanaugh Scott , Tsai Pei-San , Pitteloud Nelly , Martinez-Barbera Juan-Pedro , Dattani Mehul

Loss-of-function mutations in FGF8 in humans have been associated with Kallmann syndrome (KS), which is characterised by the combination of hypogonadotrophic hypogonadism with anosmia, suggesting that FGF8 is critical for GnRH neuronal development. Interestingly, hypomorphic Fgf8 mutant mice demonstrate poor telencephalic development with deletions of midbrain tissue, absence of olfactory bulbs and optic chiasm, and holoprosencephaly (HPE) with an abnormal corpus...

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Endocrine Abstracts

Mutations in the gene encoding the fibroblast growth factor 8 (FGF8) are associated with complex midline defects including recessive holoprosencephaly and hypothalamo-pituitary dysfunction

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