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Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

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The original article was published in BMC Medical Genetics 2017 18:108

Correction

Following publication of the original article [1], the authors reported an error in Table 3 on page 4. Variant No. 18 should be “p.Ser339Phe c.1016C>T” (as given in Number 117 of Additional file 2). Other errors were found in the original Additional file 2, which has been replaced with an updated version (see below).

Additional file 2. Spectrum of PAH gene variants in a Chinese Han population

Number Trivial name (Protein effect) Systematic name (DNA level) Location Variant type Allele frequency (%)
1 p.S16* c.47-48delCT Exon 1 Deletion 0.2
2 c.61-3T>C Intron 1 Splicing 0.1
3 p.Arg53His c.158G>A Exon 2 Missense 4.7
4 p.Arg53Cys c.157C>T Exon 2 Missense 0.1
5 p.Glu44del c.131-133delAAG Exon 2 Deletion 0.2
6 p.Glu56Asp c.168G>T Exon 2 Missense 0.1
7 c.168+2T>C Intron 2 Splicing 0.1
8 c.168+5G>C Intron 2 Splicing 0.1
9 p.Ile65Thr c.194T>C Exon 3 Missense 0.5
10 p.Ile65Ser c.194T>G Exon 3 Missense 0.2
11 p.Ser70del c.208-210delTCT Exon 3 Deletion 2.5
12 p.Asp75His c.223G>C Exon 3 Missense 0.1
13 p.Tyr77* c.231T>G Exon 3 Nonsense 0.1
14 p.Ile94Val c.280A>G Exon 3 Missense 0.1
15 p.Asp101Asn c.301G>A Exon 3 Missense 0.3
16 p.Gly103Asp c.308G>A Exon 3 Missense 0.2
17 p.His107Arg c.320A>G Exon 3 Missense 1.8
18 p.Arg111* c.331C>T Exon 3 Nonsense 4.4
19 p.Glu78Phefs*13 c.232-235delGAAT Exon 3 Deletion 0.1
20 p.Ile95del c.284-286deTCA Exon 3 Deletion 0.1
21 IVS3-2A>G c.353-2A>G Intron3 Splicing 0.1
22 p.Pro147Leu c.440C>T Exon 4 Missense 0.2
23 c.441+1G>A Intron 4 Splicing 0.1
24 c.441+3G>C Intron 4 Splicing 0.4
25 c.442-1G>A Intron 4 Splicing 3.4
26 c.442-1G>C Intron 4 Splicing 0.1
27 c.442-14C>T Intron 4 Splicing 0.1
28 p.Tyr154* c.462C>A Exon 5 Nonsense 0.1
29 p.Arg155His c.464G>A Exon 5 Missense 0.2
30 p.Arg156Pro c.466G>C Exon 5 Missense 0.2
31 p.Arg158Trp c.472C>T Exon 5 Missense 0.5
32 p.Arg158Gln c.473G>A Exon 5 Missense 0.5
33 p.Gln160* c.478 C>T Exon 5 Nonsense 0.2
34 p.Phe161Ser c.482T>C Exon 5 Missense 1.0
35 p.Ala165Asp c.494C>A Exon 5 Missense 0.1
36 p.Tyr166* c.498C>G Exon 5 Nonsense 0.6
37 p.Arg169Ser c.505C>A Exon 5 Missense 0.1
38 p.Arg169Cys c.505C>T Exon 5 Missense 0.2
39 p.Arg169His c.506G>A Exon 5 Missense 0.1
40 p.His170Arg c.509A>G Exon 5 Missense 0.1
41 p.His170Gln c. 510T>A Exon 5 Missense 0.3
42 p.Arg155Valfs*40 c.463delC Exon 5 Deletion 0.1
43 c.509+1G>A Intron 5 Splicing 0.1
44 c.510-1G>A Intron 5 Splicing 0.1
45 c.510-1G>C Intron 5 Splicing 0.1
46 p.Gly171Arg c.511G>A Exon 6 Missense 0.1
47 p.Gln172His c.516G>T Exon 6 Missense 0.1
48 p.Arg176* c.526C>T Exon 6 Nonsense 2.0
49 p.Glu178Lys c.532 G>A Exon 6 Missense 0.1
50 p.Glu183Gly c.548A>G Exon 6 Missense 0.1
51 p.Trp187* c.561G>A Exon 6 Nonsense 0.1
52 p.Trp187Arg c.559T>C Exon 6 Missense 0.1
53 p.Gly188Val c.563G>T Exon 6 Missense 0.1
54 p.His201Arg c.602A>G Exon 6 Missense 0.1
55 p.Cys203Ser c.607T>A Exon 6 Missense 0.1
56 p. Ex6-96A>G c.611A>G Exon 6 Splicing 0.1
57 p.Cys217Tyr c.650G>A Exon 6 Missense 0.1
58 p.Ile224Thr c.671T>C Exon 6 Missense 0.4
59 p.Leu227Val c.679C>G Exon 6 Missense 0.1
60 p.Glu228Asp c.684A>C Exon 6 Missense 0.1
61 p.Val230Ile c.688G>A Exon 6 Missense 0.5
62 p.Val230A c.689T>C Exon 6 Missense 0.1
63 p.Gln232* c.694C>T Exon 6 Nonsense 0.2
64 p.Phe233Leu c.699C>A Exon 6 Missense 0.2
65 p.Leu194Glufs*6 c.580C>GA Exon 6 Indel 0.1
66 p.Ser231Valfs*52 c.690-691insG Exon 6 Insertion 0.1
67 c.707-1G>A Intron 6 Splicing 0.2
68 p.Arg241Cys c.721C>T Exon 7 Missense 4.6
69 p.Arg241His c.722G>A Exon 7 Missense 0.4
70 p.Arg241Leu c.722G>T Exon 7 Missense 0.1
71 p.Leu242Phe c.724C>T Exon 7 Missense 0.2
72 p.Arg243Gln c.728G>A Exon 7 Missense 17.7
73 p.Arg243* c.727C>T Exon 7 Nonsense 0.1
74 p.Val245Met c.733G>A Exon 7 Missense 0.1
75 p.Gly247Val c.740G>T Exon 7 Missense 1.5
76 p.Gly247Arg c.739G>C Exon 7 Missense 0.7
77 p.Ser250Phe c.749C>T Exon 7 Missense 0.1
78 p.Arg252Gln c.755G>A Exon 7 Missense 0.6
79 p.Arg252Trp c.754C>T Exon 7 Missense 0.3
80 p.Arg252Gly c. 754C>G Exon 7 Missense 0.1
81 p.Arg252Pro c.755G>C Exon 7 Missense 0.1
82 p.Leu255Ser c.764T>C Exon 7 Missense 0.4
83 p.Gly257Val c.770G>T Exon 7 Missense 0.6
84 p.Arg261Gln c.782G>A Exon 7 Missense 1.7
85 p.Arg261* c.781C>T Exon 7 Nonsense 0.1
86 p.Phe263Leu c.787T>C Exon 7 Missense 0.1
87 p.Gln267Glu c.799C>G Exon 7 Missense 0.2
88 p.Tyr268* c.804C>A Exon 7 Nonsense 0.1
89 p.Arg270Lys c.809G>A Exon 7 Missense 0.2
90 p.Arg270Ile c. 809G>T Exon 7 Missense 0.1
91 p.His271Arg c.812A>G Exon 7 Missense 0.1
92 p.Pro275Leu c.824C>T Exon 7 Missense 0.2
93 p.Met276Lys c.827T>A Exon 7 Missense 0.2
94 p.Met276Arg c.827T>G Exon 7 Missense 0.1
95 p.Thr278Ile c.833C>T Exon 7 Missense 0.1
96 p.Glu280Lys c.838G>A Exon 7 Missense 0.4
97 p.Pro281Arg c.842C>G Exon 7 Missense 0.1
98 p.Arg241Profs*100 c.722delG Exon 7 Deletion 0.5
99 c.842+1G>A Intron 7 Splicing 0.2
100 c.843-1G>A Intron 7 Splicing 0.2
101 c.842+2T>A Intron 7 Splicing 1.5
102 p.Val291Met c.871G>A Exon 8 Missense 0.1
103 p.Ala300Ser c.898G>T Exon 8 Missense 0.1
104 p.Ser303Pro c.907T>C Exon 8 Missense 0.1
105 p.Ser303Profs*38 c.907delT Exon 8 Deletion 0.1
106 c.912+1G>A Intron 8 Splicing 0.1
107 c.912+16T>A Intron 8 Splicing 0.1
108 c.913-7A>G Intron 8 Splicing 0.2
109 p.Ser310Phe c.929C>T Exon 9 Missense 0.1
110 p.Ser310Cys c.929C>G Exon 9 Missense 0.1
111 p.Gly312Val c.935G>T Exon 9 Missense 0.1
112 p.Pro314Thr c.940C>A Exon 9 Missense 0.4
113 p.Ala322Thr c.964G>A Exon 9 Missense 0.2
114 p.Ile324Asn c.971T>A Exon 10 Missense 0.4
115 p.Trp326* c.977G>A Exon 10 Nonsense 0.2
116 p.Phe331Ser c.992T>C Exon 10 Missense 0.1
117 p.Ser339Phe c.1016C>T Exon 10 Missense 0.1
118 p.Lys341Asn c.1023G>C Exon 10 Missense 0.1
119 p.Ala342Hisfs*58 c.1024delG Exon 10 Deletion 0.1
120 p.Gly344Asp c.1031G>A Exon 10 Missense 0.1
121 p.Gly344Ser c.1030G>A Exon 10 Missense 0.1
122 p.Ala345Thr c.1033G>A Exon 10 Missense 0.1
123 p.Ser349Ala c.1045T>G Exon 10 Missense 0.4
124 p.Gly352Arg c.1054G>C Exon 10 Missense 0.1
125 p.Gln355* c.1063C>T Exon 10 Nonsense 0.1
126 c.1066-1G>T Intron 10 Splicing 0.2
127 c.1066-11G>A Intron 10 Splicing 0.1
128 c.1066-13delT Intron 10 Splicing 0.1
129 c.1066-14C>G Intron 10 Splicing 0.1
130 p.Tyr356* c.1068C>A Exon 11 Nonsense 4.7
131 p.Cys357* c.1071C>A Exon 11 Nonsense 0.1
132 p.Pro362Ser c.1084C>T Exon 11 Missense 0.1
133 p.Pro362Thr c.1084C>A Exon 11 Missense 0.1
134 p.Lys363Asn c.1089G>T Exon 11 Missense 0.2
135 p.Pro366Ala c.1096C>G Exon 11 Missense 0.1
136 p.Thr372Ser c.1114A>T Exon 11 Missense 0.1
137 p.Thr372Arg c.1115 C>G Exon 11 Missense 0.1
138 p.Ala373Thr c.1117G>A Exon 11 Missense 0.1
139 p.Gln375Glu c.1123C>G Exon 11 Missense 0.3
140 p.Thr380Met c.1139C>T Exon 11 Missense 0.2
141 p.Val388Met c.1162G>A Exon 11 Missense 0.1
142 p.Ser391Thr c.1172G>C Exon 11 Missense 0.1
143 p.Phe392Ile c.1174T>A Exon 11 Missense 0.4
144 p.Lys398= c.1194A>G Exon 11 Splicing 0.1
145 p.Val399= c.1197A>T Exon 11 Splicing 6.4
146 p.Arg400Thr c.1199G>C Exon 11 Missense 0.5
147 p.Arg400Lys c.1199G>A Exon 11 Missense 0.2
148 c.1199+1G>C Intron11 Splicing 0.2
149 c.1199+2T>C Intron 11 Splicing 0.2
150 c.1200-1G>C Intron 11 Splicing 0.1
151 c.1200-1G>A Intron 11 Splicing 0.2
152 c.1200-3T>G Intron11 Splicing 0.2
153 p.Ala403Val c.1208C>T Exon 12 Missense 1.0
154 p.Arg408Trp c.1222C>T Exon 12 Missense 0.4
155 p.Arg408Gln c.1223G>A Exon 12 Missense 0.6
156 p.Arg413Pro c.1238G>C Exon 12 Missense 4.6
157 p.Tyr414* c.1242C>A Exon 12 Nonsense 0.1
158 p.Asp415Tyr c.1243G>T Exon 12 Missense 0.1
159 p.Thr418Pro c.1252A>C Exon 12 Missense 0.6
160 p.Gln419Arg c.1256A>G Exon 12 Missense 0.7
161 p.Ile421Thr c.1262T>C Exon 12 Missense 0.2
162 p.Gln429Lys c.1285C>A Exon 12 Missense 0.1
163 p.Leu430Pro c.1289T>C Exon 12 Missense 0.2
164 p.Ala434Asp c.1301C>A Exon 12 Missense 1.7
165 c.1315+4A>G Intron 12 Splicing 0.1
166 c.1315+6T>A Intron 12 Splicing 0.3
167 c.1316-2A>C Intron 12 Splicing 0.2
168 p.Leu444Phe c.1330C>T Exon 13 Missense 0.1
169 p.*453Proext*33 c.1357delTAAAG Exon 13 Deletion 0.1
170   5’ UTR ~E1 Deletion 0.6
171 c.(168+1_169-1)_c. (352+1_353-1)del E3 Deletion 0.1
172 c. (441+1_442-1)_(842+1_843-1)del E4~E7 Deletion 0.1
173 c. (441+1_442-1) _c. (509+1_510-1)del E5 Deletion 0.1
174 c. (441+1_442-1)_(509+1_510-1)del E4~E5 Deletion 0.2
Detected 96.6
Unknown 3.4
Total 100
  1. Novel alleles identified in the current study.

Reference

  1. 1.

    Liu N, Huang Q, Li Q, Zhao D, Li X, Cui L, Bai Y, Feng Y, Kong X. Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. BMC Med Genet. 2017;18:108. doi: 10.1186/s12881-017-0467-7.

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Correspondence to Xiangdong Kong.

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The original article can be found online at https://doi.org/10.1186/s12881-017-0467-7.

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Liu, N., Huang, Q., Li, Q. et al. Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. BMC Med Genet 19, 6 (2018) doi:10.1186/s12881-017-0516-2

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