Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria

Kong, Xiao‐Fei; Ye, Jing; Gao, De-Yong; Gong, Qiming; Zhang, Donghua; Lu, Zhongmin; Lu, Yiming; Zhang, Xinxin

doi:10.1016/j.jhep.2007.09.013

Cited by 20 publications

(24 citation statements)

References 18 publications

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“…Patient A, patient B, and some of patient A's family members carried the lowly expressed allele IVS3−48 C. In addition, we have also genotyped this IVS3−48 C/T polymorphism for 34 controls in the Chinese Han population with non-porphyria, giving an IVS3−48 C allele frequency of 36.76%. This result was similar to those of previous report (Kong et al, 2008). Although the mutations (c.1232 G>T and c.973 delA) have been identified in North American and Caucasian EPP patients (Gouya et al, 2004;Balwani et al, 2013), this is the first detailed study of these mutations in the Chinese population.…”

Section: Resultssupporting

confidence: 92%

“…To date, there are only 5 reports associated with Chinese EPP patients with pathogenic FECH mutations (IVS3+1 G>A, c.67+1 G>C or IVS1+1 G>C, c.68−23 C>T or IVS1−23 C>T, c.579 T>A or Y191X, IVS3−48 T>C, c.343 C>T or R115X) (Zhou et al, 2007;Kong et al, 2008;Zhang et al, 2008;Lau Ma et al, 2010). Our current work presents 8 variations and only two (IVS1−23 C>T and IVS3−48 T>C) are described in Chinese EPP patients.…”

Section: Resultsmentioning

confidence: 99%

“…php). However, there are only a few detailed reports of EPP in the Asian population and only 5 reports on Chinese EPP patients (Zhou et al, 2007;Kong et al, 2008;Zhang et al, 2008;Lau et al, 2009;Ma et al, 2010). There is still a lack of sufficient patient information for a population-based analysis in Chinese people and for a comparative study among different ethnic groups.…”

Section: Introductionmentioning

confidence: 99%

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Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review

Long

Wang

Chen

et al. 2016

J. Zhejiang Univ. Sci. B

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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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Section: Resultssupporting

confidence: 92%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review

Long

Wang

Chen

et al. 2016

J. Zhejiang Univ. Sci. B

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“…Moreover, because the patient and his brother have inherited the low-expression haplotype from their mother, we can assume that the asymptomatic father in this family must have the haplotype -251A/A, IVS1-23C/C, IVS3-48T/T, and thus these individuals did not manifest the disease. This mutation, first described in a Finnish patient (22), has been also found in patients from France (28), Spain (26,29), Italy (30), Sweden (13), and China (31). Of the seven patients who carried the 343C>T mutation, only three suffered from liver disease (13,28,31).…”

Section: Discussionmentioning

confidence: 85%

“…This mutation, first described in a Finnish patient (22), has been also found in patients from France (28), Spain (26,29), Italy (30), Sweden (13), and China (31). Of the seven patients who carried the 343C>T mutation, only three suffered from liver disease (13,28,31). The reason for this finding is not yet well understood.…”

Section: Discussionmentioning

confidence: 97%

Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria

Parera

Koole

Minderman

et al. 2009

Mol Med

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Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family

Schneider‐Yin

Mamet

Minder

et al. 2008

J of Inher Metab Disea

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Erythropoietic protoporphyria (EPP) is a rare hereditary disorder due to a partial deficiency of ferrochelatase (FECH). The genotype of EPP patients features a mutation on one allele of the FECH gene and a common hypomorphic FECH IVS3-48c on the other allele (M/c). The resulting enzyme activity in patients is ∼35% of that in normal individuals. Ferrochelatase deficiency results in the accumulation of protoporphyrin in the skin, which is responsible for the clinical symptom of cutaneous photosensitivity in patients. In this study, we report the identification of a novel FECH mutation delT23 in an 11-member EPP family of Jewish origin. Two EPP siblings shared an identical genotype of delT23/IVS3-48c (M/c). They were both photosensitive and showed highly increased erythrocyte protoporphyrin. The genotype of the patients' mother, who did not present with any EPP clinical symptoms, was delT23/IVS3-48t (M/t). The patients' father, an offspring of consanguineous parents, was homozygous IVS3-48 c/c. He exhibited a mild photosensitivity, and an increase of 4-fold in erythrocyte protoporphyrin. His FECH mRNA amount was 71% of that of genotype t/t. It is the first reported case of an individual with c/c genotype who exhibits both biochemical and clinical indications of EPP. These results suggest that IVS3-48c is a functional variant of ferrochelatase. The clinical symptoms and biochemical abnormalities in the patients' father could be the result of an interaction between genetic and environmental factors. In addition, the frequency of IVS3-48c in the Ashkenazi Jewish population was estimated at 8%, which is similar to that in the European populations.

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Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria

Cited by 20 publications

References 18 publications

Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review

Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review

Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria

Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family

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