Molecular characteristics
GZF1 is located at 20p11.21 andencodes GDNF-inducible zinc finger protein 1, a transcription factor which plays a role in the induction and repression of other genes. The gene consists of an N-terminal BTB-POX Fukuda and ten tandem C2H2 zinc-finger domains. Fukuda N et al. (2003) and Patel N et al. (2017) found that GZF1 is expressed in the developing kidneys, developing eyes, and the mesenchyme of developing limb buds in mice.
Mutations and pathophysiology
Patel N et al. (2017) identified a nonsense mutation, c.865G>T (pGlu289*) (GenBank: NM_022482.4), and a frameshift mutation, c.1054dup (p.Thr352Asnfs*50) (GenBank: NM_022482.4), in five affected individuals of two consanguineous Saudi families with joint laxity, myopia, and short stature. The study identified a significant downregulation of P3H2, a gene that codes for matrix proteins. Abnormal modelling of the extracellular matrix may explain the disease mechanism behind the severe myopia and retinal detachment.