Molecular Characteristics
RSPRY1 is located at 16q13 and encodes a hypothetical RING and SPRY domain containing protein, which is of largely unknown function. It was found to be expressed in the liver, kidneys, testes, ovaries, and spleen. Rspry1 protein was also detected in mouse limb bud mesenchyme and most developing endochondral bones and skeletal muscles. Speculations regarding the function of RSPRY1 may be made when considering SPRY-containing proteins, Sprouty1, 2, and 4, which inhibit FGF signalling; speculations about whether cells with RSPRY1 mutations have enhanced FGF signalling are still unconfirmed.
Mutations and pathophysiology
Faden et al. identified a frameshift mutation, c.1279dupA, (p.Thr427Asnfs*10) (GenBank: NM_133368.1) affecting 4 individuals from a consanguineous family, and a missense mutation, c.121G>T (p.Gly41Cys) (GenBank: NM_133368.1) affecting an individual from a non-consanguineous family. RSPRY1 mutations produce a highly distinct form of spondyloepimetaphyseal dysplasia as described in the previous sections.