| Title |
Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene
|
|---|---|
| Published in |
Human Genetics, December 1996
|
| DOI | 10.1007/s004390050325 |
| Pubmed ID | |
| Authors |
H.-M. Lam, Laryssa Dragan, H. C. Tsou, Hans Merk, Monica Peacocke, Günter Goerz, Shigeru Sassa, Maureen Poh-Fitzpatrick, David R. Bickers, A. M. Christiano |
| Abstract |
The porphyrias are disorders that result from the inherited or acquired dysregulation of one of the eight enzymes in the heme biosynthetic pathway. Variegate porphyria (VP) is characterized by deficiencies in protoporphyrinogen oxidase (PPO) and has recently been genetically linked (Z = 6.62) to the PPO gene on chromosome 1q21. In this study, we have identified two sequence variants in the PPO gene in a family with VP. The first is a neutral polymorphism at the -47 position of intron 2; this polymorphism is present in the general population and is unlikely to underlie the VP phenotype. The second is a mutation in the PPO gene in a patient with VP; the mutation consists of an apparently de novo 2-bp insertion in exon 3 of PPO and results in a frameshift and downstream premature termination codon. These data establish that a frameshift mutation in PPO is the underlying mutation in this patient with VP and explain the sporadic occurrence of the phenotype in this family. |
Mendeley readers
The data shown below were compiled from readership statistics for 4 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 4 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 2 | 50% |
| Unknown | 2 | 50% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 1 | 25% |
| Medicine and Dentistry | 1 | 25% |
| Unknown | 2 | 50% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 02 August 2015.
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#8,534,976
of 25,373,627 outputs
Outputs from Human Genetics
#1,014
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#19,846
of 92,556 outputs
Outputs of similar age from Human Genetics
#6
of 24 outputs
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