Abstract | BACKGROUND: OBSERVATION: A 5-year-old patient with first-degree-related parents presented with HEP and mild symptomatology. We found low levels of UROD enzymatic activity and a new homozygous mutation of the UROD gene, a phenylanine-to- leucine substitution at codon 46 (F46L). Both parents were healthy carriers of the mutation. The mother had reduced UROD activity (50% of normal), whereas the father had normal UROD activity. Prokaryotic expression of the F46L mutation using a pGEX vector has been used to confirm the deleterious effect of the mutation. When the mother started a new pregnancy, a prenatal study showed the absence of F46L mutation in the fetus and no accumulation of porphyrins in the amniotic fluid. CONCLUSIONS: A new mutation in the UROD gene causes a mild HEP phenotype. A normal UROD enzymatic activity was observed in the father, despite the presence of the heterozygous mutation. To our knowledge, this observation is the first description of a prenatal exclusion of HEP.
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Authors | Cécile Ged, D Ozalla, C Herrero, M Lecha, M Mendez, H de Verneuil, J M Mascaro |
Journal | Archives of dermatology
(Arch Dermatol)
Vol. 138
Issue 7
Pg. 957-60
(Jul 2002)
ISSN: 0003-987X [Print] United States |
PMID | 12071824
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Codon
- Phenylalanine
- Uroporphyrinogen Decarboxylase
- Leucine
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Topics |
- Amino Acid Substitution
(genetics)
- Child, Preschool
- Chromosome Aberrations
- Codon
- Consanguinity
- Female
- Genes, Recessive
- Genetic Carrier Screening
- Homozygote
- Humans
- Leucine
(genetics)
- Male
- Mutation
(genetics)
- Phenylalanine
(genetics)
- Porphyria, Erythropoietic
(diagnosis, genetics)
- Pregnancy
- Prenatal Diagnosis
- Uroporphyrinogen Decarboxylase
(deficiency, genetics)
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