|
Case no.
|
Age (month)
|
Sex
|
Location
|
Nucleotide change*
|
Amino acid change
|
GALT activity†(μmol/h/g Hb)
|
Category‡
|
|---|
|
1
|
24.5
|
M
|
Exon 3
|
c.286_299delGACAACGACTTCCC
|
p.Asp96Serfs*5
|
< 0.1
|
G/G
|
| | | |
IVS 4
|
c.378-1G > C
|
p.?
| | |
|
2
|
1.8
|
F
|
Exon 3
|
c.286_299delGACAACGACTTCCC
|
p.Asp96Serfs*5
|
7.3
|
G/G
|
| | | |
IVS 8
|
c.821-7A > G
|
Exon 9 deletion
| | |
|
3
|
2.3
|
F
|
Exon 5
|
c.493 T > C
|
p.Tyr165His
|
6.3
|
G/G
|
| | | |
Exon 10
|
c.998G > A
|
p.Arg333Gln
| | |
|
4
|
1.7
|
M
|
Exon 10
|
c.998G > A
|
p.Arg333Gln
|
1.8
|
G/G
|
| | | |
Exon 10
|
c.998G > A
|
p.Arg333Gln
| | |
|
5
|
1.1
|
F
|
Exon 3
|
c.302C > A
|
p.Ala101Asp
|
6.2
|
G/D
|
| | | |
Exon 10
|
c.940A > G
|
p.Asn314Asp§
| | |
|
6
|
2.9
|
M
|
Exon 9
|
c.826_827delinsAA
|
p.Ala276Asn
|
5.9
|
G/D
|
| | | |
Exon 10
|
c.940A > G
|
p.Asn314Asp§
| | |
|
7
|
3.1
|
M
|
Exon 4
|
c.346C > A
|
p.Leu116Ile
|
15.6
|
G/N
|
|
8
|
2.2
|
F
|
Exon 7
|
c.602G > A
|
p.Arg201His
|
14.5
|
G/N
|
|
9
|
3.1
|
M
|
Exon 8
|
c.769C > A
|
p.Pro257Thr
|
11.6
|
G/N
|
|
10
|
2.9
|
F
|
Exon 11
|
c.1087G > A
|
p.Glu363Lys
|
16.4
|
G/N
|
|
11
|
3.0
|
F
|
Exon 10
|
c.940A > G
|
p.Asn314Asp§
|
12.5
|
D/D
|
|
12
|
3.5
|
F
|
Exon 10
|
c.940A > G
|
p.Asn314Asp§
|
12.6
|
D/N
|
|
13
|
5.2
|
M
|
Exon 10
|
c.940A > G
|
p.Asn314Asp§
|
16.1
|
D/N
|
-
GALT galactose-1-phosphate uridyltransferase.
- *Nucleotide numbering was based on the GALT cDNA sequence (RefSeq NM_000155.2) with nucleotide +1 being the A of the first ATG translation initiation codon.
-
†The reference range of GALT enzyme activity was 20–35 μmol/h/g Hb for normal healthy individuals and the limit of quantitation was 0.1 μmol/h/g Hb.
-
‡D, Duarte variant; G, allele for galactosemia including novel likely pathogenic variant; N, normal allele.
-
§Duarte variant.
