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GDF6
MIM.601147 8q22.1
Tuesday 4 December 2007
Growth/differentiation factor-6 is a member of the bone-morphogenetic protein family and the transforming growth factor-beta (TGFB1) superfamily (MIM.190180).
The spectrum of disorders generated by morpholino inhibition and the more severe defects (microphthalmia and anophthalmia) observed at higher doses illustrate the key role of GDF6 in ocular development.
Pathology
8q21.2-q22.1 segmental deletion in chorioretinal coloboma.
Mouse model
Inhibition of gdf6a in a model organism creates a coloboma.
References
Asai-Coakwell M, French CR, Berry KM, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz AJ, Lehmann OJ. GDF6, a novel locus for a spectrum of ocular developmental anomalies. Am J Hum Genet. 2007 Feb;80(2):306-15. PMID: 17236135