CLC number: R556.7
On-line Access: 2024-08-27
Received: 2023-10-17
Revision Accepted: 2024-05-08
Crosschecked: 2016-09-18
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Zhang-biao Long, Yong-wei Wang, Chen Yang, Gang Liu, Ya-li Du, Guang-jun Nie, Yan-zhong Chang, Bing Han. Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review[J]. Journal of Zhejiang University Science B, 2016, 17(10): 813-820.
@article{title="Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review",
author="Zhang-biao Long, Yong-wei Wang, Chen Yang, Gang Liu, Ya-li Du, Guang-jun Nie, Yan-zhong Chang, Bing Han",
journal="Journal of Zhejiang University Science B",
volume="17",
number="10",
pages="813-820",
year="2016",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.B1600085"
}
%0 Journal Article
%T Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review
%A Zhang-biao Long
%A Yong-wei Wang
%A Chen Yang
%A Gang Liu
%A Ya-li Du
%A Guang-jun Nie
%A Yan-zhong Chang
%A Bing Han
%J Journal of Zhejiang University SCIENCE B
%V 17
%N 10
%P 813-820
%@ 1673-1581
%D 2016
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B1600085
TY - JOUR
T1 - Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review
A1 - Zhang-biao Long
A1 - Yong-wei Wang
A1 - Chen Yang
A1 - Gang Liu
A1 - Ya-li Du
A1 - Guang-jun Nie
A1 - Yan-zhong Chang
A1 - Bing Han
J0 - Journal of Zhejiang University Science B
VL - 17
IS - 10
SP - 813
EP - 820
%@ 1673-1581
Y1 - 2016
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B1600085
Abstract: erythropoietic protoporphyria (EPP), an autosomal dominant disease, is caused by partial deficiency of ferrochelatase (FECH), which catalyzes the terminal step of heme biosynthesis because of loss-of-function mutations in the FECH gene. To date, only a few cases have been described in Asia. In this study, we describe the clinical features of two chinese patients with EPP, with diagnosis confirmed by the increase of free protoporphyrin in erythrocytes, detection of plasma fluorescence peak at 630–634 nm, and analysis of FECH gene mutations. Using gene scanning, we identified a small deletion in the FECH gene (c.973 delA) in one proband (patient A) and a pathogenic FECH mutation (c.1232 G>T) in the other (patient B) and also observed some nucleotide variations (c.798 C>G, c.921 A>G, IVS1−23 C>T, IVS3+23 A>G, IVS9+35 C>T, and IVS3−48 T>C) in these patients. The family pedigree of patient A was then established by characterization of the genotype of the patient’s relatives. We also analyzed the potential perniciousness of the missense mutation with bioinformatic software, Polyphen and Sift. In summary, Chinese EPP patients have similar manifestations to those of Caucasians, and identification of the Chinese FECH gene mutations expands the FECH genotypic spectrum and may contribute to genetic counseling.
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[28]List of electronic supplementary materials
[29]Table S1 Primer pairs used for the amplification of the human FECH gene
[30]Table S2 Primer pairs used for the quantification in the c.973 region of the human FECH gene via real-time PCR analysis
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