GALNT3 mutations identified in familial tumoural calcinosis (FTC) and hyperostosis-hyperphosphataemia syndrome (HHS) patients.

aThe locations of these mutations are illustrated in Figure 1.bNucleic acid change at base pair in the cDNA sequence (Genbank accession number NM_004482.3); del, deletion; skip, exon skipping; and ins, insertion.caa, amino acid; del, deletion; fs, frameshift. Mutations 2, 4, 5, 6, 14, 15, 16, 17, 18, 20, 21, 24 and 25 were identified as homozygotes. Of these, mutations 5, 14, 17, 21 and 25 were also identified in other patients as compound heterozygotes. Compound heterozygous mutations were identified in the following combinations: 1+9, 3+5, 3+21, 7+23, 8+12, 10+14, 11+19, and 17+25.dFTC, familial tumoural calcinosis; HHS, hyperostosis-hyperphosphataemia syndrome.