Fig. 1.

Pedigrees of STUB1 families and domain location of the four novel STUB1 mutations. a Compound heterozygous STUB1 mutations and pedigrees of the two reported families. In family 1, one affected individual (II.1) carried the compound heterozygeous mutations p.Arg119* and p.Ile294Phe. In family 2, two affected siblings (II.1 and II.4) both carried the mutations p.Lys145Gln and p.Pro243Leu. b Schematic representation of CHIP, the protein encoded by STUB1, with the highly conserved N-terminal tetratricopeptide repeat and C-terminal U-box domain. Of the four novel mutations, two are located in the U-Box domain (p.Pro243Leu and p.Ile294Phe), one in between the conserved domains (Lys145Gln) and one is predicted to locate to the tetratricopeptide repeat domain (p.Arg119*), which, however, most probably leads to nonsense-mediated decay on RNA level