Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria

Aurizi, Caterina; Schneider‐Yin, Xiaoye; Sorge, Fiammetta; Macrí, A.; Minder, Elisabeth I.; Biolcati, G.

doi:10.1016/j.ymgme.2006.10.012

Cited by 18 publications

(18 citation statements)

References 3 publications

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“…Our results thus reinforce the important role of the IVS3-48T/C polymorphism in the penetrance of dominant erythropoietic protoporphyria. In contrast, we did not find the functional IVS3-67G/A polymorphism in the Chinese Han population, which also affects mRNA splicing in a similar way as IVS3-48T/C does [15].…”

Section: Discussioncontrasting

confidence: 94%

“…As we were unable to detect the mRNA transcripts from the ''null'' allele in the proband's derived EBV-B cells, we conclude that this mutation was responsible for nonsense-mediated decay of transcripts. The same Arg115X heterozygous mutation has previously been reported in several European countries, namely Finland [9], France [10], Italy [15], Sweden [16] and Spain [17], and it was suggested that this point mutation might have originated and congregated in central Europe. However, our identification of this Arg115X mutation in a Chinese patient questions this hypothesis.…”

Section: Discussionsupporting

confidence: 66%

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

Kong

Gao

et al. 2008

Journal of Hepatology

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Section: Discussioncontrasting

confidence: 94%

Section: Discussionsupporting

confidence: 66%

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

Kong

Gao

et al. 2008

Journal of Hepatology

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“…reaction mixture and temperature profile, were according to the manufacturer_s recommendations. The relative amount of FECH mRNA was calculated as previously described (Aurizi et al 2007).…”

Section: Real-time Pcr Quantification Of Fech Cdnamentioning

confidence: 99%

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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“…As with the enzyme activity measurement, FECH mRNA quantification is capable of differentiating among healthy individuals with different genotypes (IVS-48T/T, IVS-48C/T and IVS-48C/C), EPP patients (genotype: mutation in trans to IVS-48C) and asymptomatic mutation carriers (genotype: mutation in trans to IVS-48T). [53][54][55] The XLDPP patients may have the genotype IVS-48T/T, IVS-48C/T, or IVS-48C/C with respect to the FECH gene.…”

Section: Ferrochelatase Activity Measurement and Fech Mrna Quantifmentioning

confidence: 99%

Erythropoietic Protoporphyria and X-Linked Dominant Protoporphyria

Schneider‐Yin

Minder

2013

Handbook of Porphyrin Science

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Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria

Cited by 18 publications

References 3 publications

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

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

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

Erythropoietic Protoporphyria and X-Linked Dominant Protoporphyria

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