Journal article

Downregulation of the GHRH/GH/IGF1 axis in a mouse mode of Borjeson-Forssman-Lehman syndrome

Helen M McRae, Samantha Eccles, Lachlan Whitehead, Warren S Alexander, Jozef Gecz, Tim Thomas, Anne K Voss

DEVELOPMENT | COMPANY BIOLOGISTS LTD | Published : 2020

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 ne..

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Grants

Awarded by National Health and Medical Research Council (NHMRC)


Awarded by National Health and Medical Research Council


Funding Acknowledgements

This work was supported by an Australian Postgraduate Award (H.M.M.), by National Health and Medical Research Council (NHMRC) project grants (1029481 to A.K.V. and T.T., and 1161111 to A.K.V.), by National Health and Medical Research Council program grants (1091593 to J.G. and 1113577 to W.S.A.), by a National Health and Medical Research Council investigator grant (1176789 to A.K.V.), by a National Health and Medical Research Council research fellowships (1003435 to T.T., 575512 and 1081421 to A.K.V., 1155224 to J.G., and 1058344 to W.S.A.), by the Independent Research Institutes Infrastructure Support Scheme from the Australian Government's National Health and Medical Research Council, and by a Victorian State Government Operational Infrastructure Support Grant.