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Type: Journal article
Title: Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome
Author: McRae, H.M.
Eccles, S.
Whitehead, L.
Alexander, W.S.
Gécz, J.
Thomas, T.
Voss, A.K.
Citation: Development (Cambridge), 2020; 147(21):1-12
Publisher: The Company of Biologists
Issue Date: 2020
ISSN: 0950-1991
Statement of
Helen M. McRae, Samantha Eccles, Lachlan Whitehead, Warren S. Alexander, Jozef Gécz, Tim Thomas and Anne K. Voss
Abstract: Börjeson-Forssman-Lehmann syndrome (BFLS) is an intellectual disability and endocrine disorder caused by plant homeodomain finger 6 (PHF6) mutations. Individuals with BFLS present with short stature. We report a mouse model of BFLS, in which deletion of Phf6 causes a proportional reduction in body size compared with control mice. Growth hormone (GH) levels were reduced in the absence of PHF6. Phf6 - /Y animals displayed a reduction in the expression of the genes encoding GH-releasing hormone (GHRH) in the brain, GH in the pituitary gland and insulin-like growth factor 1 (IGF1) in the liver. Phf6 deletion specifically in the nervous system caused a proportional growth defect, indicating a neuroendocrine contribution to the phenotype. Loss of suppressor of cytokine signaling 2 (SOCS2), a negative regulator of growth hormone signaling partially rescued body size, supporting a reversible deficiency in GH signaling. These results demonstrate that PHF6 regulates the GHRH/GH/IGF1 axis.
Keywords: BFLS
Börjeson-Forssman-Lehman Syndrome
Failure to thrive
Growth hormone
Growth hormone releasing hormone
Insulin-like growth factor 1
Plant homeodomain finger protein 6
Suppressor of cytokine signaling 2
Rights: © 2020. Published by The Company of Biologists Ltd.
DOI: 10.1242/dev.187021
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