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Table 1 Clinical and molecular findings

From: Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

Patient I II   III   IV  
Sex F M   F   F  
Age at definite diagnosis (mo) 1 21   6   1  
Age at last visit (mo) 51 36   16   5  
Development normal delayed   normal   normal  
Mutated gene PAH PTS PTS PTS PTS PAH PAH
Genomic position (hg19) 12:103,248,934 11:112,099,388 11:112,101,362 11:112,103,916 11:112,104,166 12:103,234,294 12:103,249,009
dbSNP ID novel rs104894275 rs370340361 novel novel known [18] rs62514927 [30]
Zygosity homozygous compound het compound het compound het compound het compound het compound het
Reference allele (REF) A C A A C T
Alternate allele (ALT) T G T C G G C
No. reads with REF in proband 0 25 55 21 14 114 55
No. reads with ALT in proband 51 31 46 16 5 101 33
Mutation type frameshift ins missense missense missense missense splice acceptor exonic splicing enhancer
cDNA change c.686_687insA c.155A > G c.200C > T c.274A > C c.326A > G c.1200-1G > C c.611A > G
Protein change p.Asp229Glufs*54 p.Asn52Ser p.Thr67Met p.Asn92His p.Asn109Ser N/A p.Tyr204Cys
Prediction SIFT N/A damaging damaging damaging damaging N/A damaging
Prediction PROVEAN N/A deleterious deleterious deleterious deleterious N/A neutral