Adult cases 1st Allele 2nd Allele Patients Gender Region cDNA Protein Region cDNA Protein 1 M Intron 4 c.400+2dup p.Ala108Glufs*3 Intron 4 c.400+2dup p.Ala108Glufs*3 7 M ND ND ND ND ND ND 9 ~ M ND ND ND ND ND ND 10 ~ M ND ND ND ND ND ND 11 M Exon 3 c.289_290del p.Leu97Valfs*12 Exon 5 c.521_523del p.Phe174del 12 M Exon 1 c.1A>G p.Met1? Intron 4 c.400+2dup p.Ala108Glufs*3 15 M ND ND ND ND ND ND 17 M ND ND ND ND ND ND 18 F ND ND ND ND ND ND 19 F Intron 4 c.400+2dup p.Ala108Glufs*3 NF NF NF 20 F Intron 4 c.400+2dup p.Ala108Glufs*3 Intron 4 c.400+2dup p.Ala108Glufs*3 22• M Exon 4 c.371T>G p.Val124Gly Exon 4 c.371T>G p.Val124Gly 23• F Exon 4 c.371T>G p.Val124Gly Exon 4 c.371T>G p.Val124Gly 24 M ND ND ND ND ND ND 25 F Intron 4 c.400+2dup p.Ala108Glufs*3 Intron 4 c.400+2dup p.Ala108Glufs*3 27 M Intron 2 / Exon 3 c.188-145_296del insTTCCCGTA p.? Intron 2 / Exon 3 c.188-145_296del insTTCCCGTA p.? 29 M Intron 2 c.188-3C>G p.? Intron 2 c.188-3C>G p.? 30 F Intron 1 c.81-2A>G p.? Intron 1 c.81-2A>G p.? 31 F Exon 3 c.289_290del p.Leu97Valfs*12 Exon 3 c.289_290del p.Leu97Valfs*12 32 F Exon 3 c.199C>T p.Arg67* Intron 4 c.400+2dup p.Ala108Glufs*3 33 F Intron 4 c.400+2dup p.Ala108Glufs*3 Exon 5 c.521_523del p.Phe174del 34 M Intron 4 c.400+2dup p.Ala108Glufs*3 NF NF NF 36 M Intron 4 c.400+2dup p.Ala108Glufs*3 Exon 5 c.510del p.Val171Tyrfs*82 37 M Exon 3 c.289_290del p.Leu97Valfs*12 Intron 4 c.400+2dup p.Ala108Glufs*3 41 F Exon 5 c.541T>C p.*181Argext*121 NF NF NF 42 F ND ND ND ND ND ND 43♦ F Intron 4 c.400+2dup p.Ala108Glufs*3 Intron 4 c.400+2dup p.Ala108Glufs*3 44♦ M Intron 4 c.400+2dup p.Ala108Glufs*3 Intron 4 c.400+2dup p.Ala108Glufs*3 45♦ F Intron 4 c.400+2dup p.Ala108Glufs*3 Intron 4 c.400+2dup p.Ala108Glufs*3 47 F NF NF NF NF NF NF 50 F Exon 3 c.289_290del p.Leu97Valfs*12 Exon 3 c.289_290del p.Leu97Valfs*12 53 M Exon 1 c.1A>G p.Met1? Intron 4 c.400+2dup p.Ala108Glufs*3 54 M ND ND ND ND ND ND 56 M Exon 1 c.1A>G p.Met1? Exon 4 c.352G>C p.Glu118Gln 57 F Exon 1 c.1A>G p.Met1? Exon 4 c.352G>C p.Glu118Gln 61 F Exon 2 c.119G>C p.Arg40Pro Exon 2 c.119G>C p.Arg40Pro 62 F NF NF NF NF NF NF 63 M ND ND ND ND ND ND 64 M ND ND ND ND ND ND 67 M Intron 4 c.400+2dup p.Ala108Glufs*3 Exon 5 c.521_523del p.Phe174del  ND: not determined; NF: not found One symbol for one family (~, •, ♦)

Table 3: APRT gene Mutations in adult patients (> 16 years).