BMP4
MIM.112262 14q22-q23
BMP4 is a vital regulatory molecule that functions throughout development in mesoderm induction, tooth development, limb formation, bone induction, and fracture repair.
BMP4 is a member the transforming growth factor-beta (TGFBs) superfamily, encomprising at least 12 members, including TGFB1 (MIM.190180), TGFB2 (MIM.190220), TGFB3 (MIM.190230), Mullerian inhibitory substance (MIF) (MIM.600957), the bone morphogenetic protein-2A (BMP2A), bone morphogenetic protein-2B (BMP2B) (MIM.112262), bone morphogenetic protein-3 (MIM.112263), and bone morphogenetic protein-6 (MIM.112266).
Pathology BMP4 is a major gene for anophthalmia-microphthalmia (AM) and/or retinal dystrophy and brain anomalies and may be a candidate gene for myopia and poly/syndactyly.
Mutations in BMP4 cause eye, brain, and digit developmental anomalies (#18252212#)
- anophthalmia-microphthalmia (AM)
- retinal dystrophy
- myopia
- brain anomalies
- polydactyly
BMP4 is overexpressed in patients with fibrodysplasia ossificans progressiva (FOP) (MIM.135100) (#9042799#)
References
Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet. 2008 Feb;82(2):304-19. PMID: #18252212#
Weber S, Taylor JC, Winyard P, Baker KF, Sullivan-Brown J, Schild R, Knüppel T, Zurowska AM, Caldas-Alfonso A, Litwin M, Emre S, Ghiggeri GM, Bakkaloglu A, Mehls O, Antignac C; Escape Network, Schaefer F, Burdine RD. SIX2 and BMP4 Mutations Associate With Anomalous Kidney Development. J Am Soc Nephrol. 2008 Feb 27; PMID: #18305125#
Milet J, Dehais V, Bourgain C, Jouanolle AM, Mosser A, Perrin M, Morcet J, Brissot P, David V, Deugnier Y, Mosser J. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. Am J Hum Genet. 2007 Oct;81(4):799-807. PMID: #17847004#
Bone morphogenetic protein 2/4 in early fibromatous lesions of fibrodysplasia ossificans progressiva. Gannon FH, Kaplan FS, Olmsted E, Finkel GC, Zasloff MA, Shore E. Hum Pathol. 1997 Mar;28(3):339-43. PMID: #9042799#