CLC number: R556.7
On-line Access: 2024-08-27
Received: 2023-10-17
Revision Accepted: 2024-05-08
Crosschecked: 2016-09-18
Cited: 0
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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.
[1]Alemzadeh, R., Feehan, T., 2004. Variable effects of beta-carotene therapy in a child with erythropoietic protoporphyria. Eur. J. Pediatr., 163(9):547-549.
[2]Al-Karadaghi, S., Hansson, M., Nikonov, S., et al., 1997. Crystal structure of ferrochelatase: the terminal enzyme in heme biosynthesis. Structure, 5(11):1501-1510.
[3]Balwani, M., Doheny, D., Bishop, D.F., et al., 2013. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and X-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Mol. Med., 19(1):26-35.
[4]Biolcati, G., Marchesini, E., Sorge, F., et al., 2015. Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. Br. J. Dermatol., 172(6):1601-1612.
[5]Casanova-Gonzalez, M.J., Trapero-Marugan, M., Jones, E.A., et al., 2010. Liver disease and erythropoietic protoporphyria: a concise review. World J. Gastroenterol., 16(36):4526-4531.
[6]Christiansen, J., Dyck, J.D., Elyas, B.G., et al., 2004. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ. Res., 94(11):1429-1435.
[7]Cox, T.M., 1997. Erythropoietic protoporphyria. J. Inherit. Metab. Dis., 20(2):258-269.
[8]Gouya, L., Puy, H., Robreau, A.M., et al., 2004. Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. Hum. Genet., 114(3):256-262.
[9]Gouya, L., Martin-Schmitt, C., Robreau, A.M., et al., 2006. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am. J. Hum. Genet., 78(1):2-14.
[10]Harms, J., Lautenschlager, S., Minder, C.E., et al., 2009. An α-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria. N. Engl. J. Med., 360(3):306-307.
[11]Holme, S.A., Worwood, M., Anstey, A.V., et al., 2007. Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria. Blood, 110(12):4108-4110.
[12]Karim, Z., Lyoumi, S., Nicolas, G., et al., 2015. Porphyrias: a 2015 update. Clin. Res. Hepatol. Gastroenterol., 39(4):412-425.
[13]Kong, X.F., Ye, J., Gao, D.Y., et al., 2008. Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria. J. Hepatol., 48(2):375-379.
[14]Langendonk, J.G., 2015. Treatment for erythropoietic protoporphyria. Br. J. Dermatol., 172(6):1481-1482.
[15]Langendonk, J.G., Balwani, M., Anderson, K.E., et al., 2015. Afamelanotide for erythropoietic protoporphyria. N. Engl. J. Med., 373(1):48-59.
[16]Lau, K.C., Lam, C.W., Fong, B., et al., 2009. DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population. Clin. Chim. Acta, 400(1-2):132-134.
[17]le Gac, G., Gourlaouen, I., Ronsin, C., et al., 2008. Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype. Blood, 112(13):5238-5240.
[18]Ma, J., Xiao, S., An, J., et al., 2010. A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria. J. Eur. Acad. Dermatol. Venereol., 24(6):726-729.
[19]Mathews-Roth, M.M., 1974. Letter: Anemia in erythropoietic protoporphyria. JAMA, 230(6):824.
[20]Minder, E.I., Schneider-Yin, X., Steurer, J., et al., 2009. A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria. Cell. Mol. Biol., 55(1):84-97.
[21]Puy, H., Gouya, L., Deybach, J.C., 2010. Porphyrias. Lancet, 375(9718):924-937.
[22]Taketani, S., Inazawa, J., Nakahashi, Y., et al., 1992. Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18. Eur. J. Biochem., 205(1):217-222.
[23]Wahlin, S., Floderus, Y., Ros, A.M., et al., 2006. The difficult clinical diagnosis of erythropoietic protoporphyria. Physiol. Res., 55(2):S155-S157.
[24]Whatley, S.D., Ducamp, S., Gouya, L., et al., 2008. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am. J. Hum. Genet., 83(3):408-414.
[25]Wu, C.K., Dailey, H.A., Rose, J.P., et al., 2001. The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis. Nat. Struct. Mol. Biol., 8(2):156-160.
[26]Zhang, F., Lu, L., Qian, X., et al., 2008. Liver transplantation for erythropoietic protoporphyria with hepatic failure: a case report. Transplant. Proc., 40(5):1774-1776.
[27]Zhou, S.N., Xiao, S.X., Peng, Z.H., et al., 2007. A novel mutation of the FECH gene in a Chinese family with erythropoietic protoporphyria. J. Dermatol. Sci., 48(2):145-147.
[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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