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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