Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

Abstract

We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/intron 6 splice junction (679-IVS6+2delAAgt) is expected to cause missplicing. It would also code for a K227E missense alteration in any mRNA successfully spliced. A 2-bp deletion in exon 11 (1125-1126del CG, cDNA) results in a frameshift. A deletion of at least 5-6 kb, EX1 EX5del, spanned exons 1-5 and contiguous upstream sequence. All three deletions are heterozygous with previously documented missense mutations; the intron 6 deletion with F152I, the exon 11 deletion with G82E, and EX1 EX5del with the common mistargeting mutation, G170R.

• Authors: M B Coulter-Mackie, G Rumsby, D A Applegarth, J R Toone
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 74 Issue 3 Pg. 314-21 (Nov 2001) ISSN: 1096-7192 [Print] United States
• PMID: 11708860 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2001 Academic Press.

Chemical References

• Transaminases
• Alanine-glyoxylate transaminase

Topics

• Amino Acid Sequence
• Base Sequence
• Child
• Child, Preschool
• DNA Mutational Analysis
• Family Health
• Female
• Humans
• Hyperoxaluria, Primary (enzymology, genetics)
• Infant
• Male
• Molecular Sequence Data
• Mutation
• Polymorphism, Genetic
• Sequence Deletion
• Transaminases (drug effects, genetics, metabolism)