| Autor: |
van Tuyll van Serooskerken AM; Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands., de Rooij FW, Edixhoven A, Bladergroen RS, Baron JM, Joussen S, Merk HF, Steijlen PM, Poblete-Gutiérrez P, te Velde K, Wilson JH, Koole RH, van Geel M, Frank J |
| Jazyk: |
angličtina |
| Zdroj: |
The Journal of investigative dermatology [J Invest Dermatol] 2011 Nov; Vol. 131 (11), pp. 2249-54. Date of Electronic Publication: 2011 Jul 07. |
| DOI: |
10.1038/jid.2011.186 |
| Abstrakt: |
The simultaneous dysfunction of two enzymes within the heme biosynthetic pathway in a single patient is rare. Not more than 15 cases have been reported. A woman with a transient episode of severe photosensitivity showed a biochemical porphyrin profile suggestive of hereditary coproporphyria (HCP), whereas some of her relatives had a profile that was suggestive of variegate porphyria (VP). HCP and VP result from a partial enzymatic deficiency of coproporphyrinogen oxidase (CPOX) and protoporphyrinogen oxidase (PPOX), respectively. DNA analysis in the index patient revealed mutations in both the CPOX and PPOX genes, designated as c.557-15C>G and c.1289dupT, respectively. The CPOX mutation leads to a cryptic splice site resulting in retention of 14 nucleotides from intron 1 in the mRNA transcript. Both mutations encode null alleles and were associated with nonsense-mediated mRNA decay. Given the digenic inheritance of these null mutations, coupled with the fact that both HCP and VP can manifest with life-threatening acute neurovisceral attacks, the unusual aspect of this case is a relatively mild clinical phenotype restricted to dermal photosensitivity. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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