title: 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.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, 4480 Oak Street, Room 2F22, Vancouver, BC, Canada V6H 3V4. marioncm@interchange.ubc.ca
authors.forename: M B
authors.initials: MB
authors.lastname: Coulter-Mackie
authors.forename: G
authors.initials: G
authors.lastname: Rumsby
authors.forename: D A
authors.initials: DA
authors.lastname: Applegarth
authors.forename: J R
authors.initials: JR
authors.lastname: Toone
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000201:enzymology / Q000235:genetics*; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011110:Polymorphism, Genetic; D017384:Sequence Deletion; D000637:Transaminases / Q000187:drug effects / Q000235:genetics* / Q000378:metabolism
chemical_list: D000637:Transaminases; C019635:Alanine-glyoxylate transaminase