New Heterozygous mutation of protoporphyrinogen oxidase gene in a case of variegate porphyria in Taiwan
نویسندگان
چکیده
منابع مشابه
Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
Variegate porphyria (VP) is an autosomal dominant disorder characterised by a partial defect in the activity of protoporphyrinogen oxidase (PPO), and has recently been genetically linked to the PPO gene on chromosome 1q22-23 (Z=6.62). In this study, we identified a mutation in the PPO gene in a patient with VP and two unaffected family members. The mutation consisted of a previously unreported ...
متن کاملExpression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.
BACKGROUND Variegate porphyria (VP) is an inherited disorder of heme biosynthesis that results from a partial deficiency of protoporphyrinogen oxidase (PPOX). Patients with VP may experience acute neurovisceral attacks and cutaneous photosensitivity. To date we have characterized 109 VP patients representing 19 VP families in the Finnish population of 5 million, both biochemically and clinicall...
متن کاملMutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
Variegate porphyria (VP) is an acute hepatic porphyria with autosomal dominant inheritance due to a partial deficiency of protoporphyrinogen oxidase (PPOX) activity. The molecular defect responsible for VP was investigated by sequencing PPOX gene coding sequence from four patients in three unrelated VP families of French Caucasian origin. In a first patient, a point insertion of a G at position...
متن کاملIdentification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.
Mutation analysis of genomic DNA samples obtained from 17 unrelated South African patients with variegate porphyria (VP) revealed three novel missense mutations in the protoporphyrinogen oxidase (PPOX) gene. A common C to T transition at nucleotide position 452 (R59W) was identified in 15 of the patients analysed, while base changes at positions 336 (H20P) and 779 (R168C) were identified in the...
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ژورنال
عنوان ژورنال: Dermatologica Sinica
سال: 2020
ISSN: 1027-8117
DOI: 10.4103/ds.ds_11_20