Pediatric cases 1st Allele 2nd Allele Patients Gender Region cDNA Protein Region cDNA Protein 2 * M Intron 4 c.400+2dup p.Ala108Glufs*3 Intron 4 c.400+2dup p.Ala108Glufs*3 3 * M Intron 4 c.400+2dup p.Ala108Glufs*3 Intron 4 c.400+2dup p.Ala108Glufs*3 4 # M Intron 4 c.400+2dup p.Ala108Glufs*3 Exon 5 c.526C>T p.Leu176Phe 5 # M Intron 4 c.400+2dup p.Ala108Glufs*3 Exon 5 c.526C>T p.Leu176Phe 6 M Exon 1 c.3G>A p.Met1? Exon 1 c.3G>A p.Met1? 8 M Exon 3 c.289_290del p.Leu97Valfs*12 Intron 4 c.400+2dup p.Ala108Glufs*3 13 M Exon 3 c.194A>T p.Asp65Val Exon 4 c.329T>C p.Leu110Pro 14 M Intron 4 c.400+2dup p.Ala108Glufs*3 NF NF NF 16 F Intron 4 c.400+2dup p.Ala108Glufs*3 Intron 4 c.400+2dup p.Ala108Glufs*3 21 F Exon 4 c.371T>G p.Val124Gly Exon 4 c.371T>G p.Val124Gly 26 M Exon 5 c.532C>T p.Gln178* NF NF NF 28 F Intron 4 c.400+2dup p.Ala108Glufs*3 Exon 5 c.524C>T p.Ser175Phe 35 F Intron 4 c.400+2dup p.Ala108Glufs*3 Intron 4 c.400+2dup p.Ala108Glufs*3 38° M Exon 3 c.289_290del p.Leu97Valfs*12 Intron 4 c.400+2dup p.Ala108Glufs*3 39° M Exon 3 c.289_290del p.Leu97Valfs*12 Intron 4 c.400+2dup p.Ala108Glufs*3 40 F Intron 4 c.400+2dup p.Ala108Glufs*3 NF NF NF 46 M Exon 3 c.188G>A p.Gly63Asp Exon 3 c.188G>A p.Gly63Asp 48 M Exon 3 c.194A>T p.Asp65Val Exon 3 c.194A>T p.Asp65Val 49 F Exon 3 c.188G>A p.Gly63Asp Exon 3 c.188G>A p.Gly63Asp 51 M Exon 3 c.286_287del p.Thr96Serfs*13 Exon 3 c.286_287del p.Thr96Serfs*13 52 M Exon 2 c.84C>A p.Asp28Glu Exon 2 / Intron 2 c.184_187+22del p.Gly63* 55 F Intron 4 c.400+2dup p.Ala108Glufs*3 Exon 5 c.472_474del p.Glu158del 58 ∴ F Exon 1 c.1A>G p.Met1? Exon 5 c.491G>A p.Gly164Asp 59∴ F ND ND ND ND ND ND 60∴ F ND ND ND ND ND ND 65 M Intron 4 c.400+2dup p.Ala108Glufs*3 Exon 5 c.428T>C p.Leu143Pro 66 M Exon 3 c.311A>G p.Glu104Gly Exon 3 c.311A>G p.Glu104Gly ND: not determined; NF: not found One symbol for one family (*, #, ° , ∴)

Table 2: Aprt gene mutations in pediatric patients (< 16 years).