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Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization

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The Gli‐family of zinc‐finger transcription factors regulates the Sonic Hedgehog (Shh) signalling pathway that plays a key role in early pituitary and ventral forebrain development. Heterozygous GLI2 loss of function… Click to show full abstract

The Gli‐family of zinc‐finger transcription factors regulates the Sonic Hedgehog (Shh) signalling pathway that plays a key role in early pituitary and ventral forebrain development. Heterozygous GLI2 loss of function mutations in humans have been reported in holoprosencephaly (HPE), HPE‐like phenotypes associated with pituitary anomalies and combined pituitary hormone deficiency with or without other extra‐pituitary findings.

Keywords: combined pituitary; hormone deficiency; pituitary hormone; gli2

Journal Title: Clinical Endocrinology
Year Published: 2019

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