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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