Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.
A patient with hydrops fetalis caused by beta-glucuronidase deficiency was found to be homozygous for a C to T transition at nucleotide position 672 in his cDNA. Genomic analysis showed the presence of pseudogenes for the beta-glucuronidase gene. After separation of PCR products of the gene and the pseudogenes it was shown that the patient and his father were heterozygous for the C-T 672 transition and the mother did not carry the mutation.
Vervoort
R
R
Department of Medical Genetics, University Hospital, Vrije Universiteit Brussel, Belgium.
Lissens
W
W
Liebaers
I
I
D001483:Base Sequence; D004247:DNA; D005966:Glucuronidase / Q000172:deficiency*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011544:Pseudogenes; D012689:Sequence Homology, Nucleic Acid
D004247:DNA; D005966:Glucuronidase