title: Identification of 5 novel mutations in the AGXT gene.
abstract: In order to identify additional genotypes in primary hyperoxaluria type 1, we sequenced the AGXT genes of 9 patients. We report 5 new mutations. Three are splice-site mutations situated at the end of intron 4 and 8 (647-1G>A, 969-1G>C, 969-3C>G), one is a missense mutation in exon 5 (D183N), and one is a short duplication in exon 2 (349ins7). Their consequence is always a lack of enzymatic activity of the Alanine-Glyoxylate Aminotransferase (AGT); for 4 of them, we were able to deduce that they were associated to the absence of AGT protein. These mutations are rare, as they have been found on one allele in our study (except 969-3C>G present in 2 unrelated families), and have not been previously reported.
authors.affiliation: Laboratoire de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France.
authors.forename: O
authors.initials: O
authors.lastname: Basmaison
authors.forename: M O
authors.initials: MO
authors.lastname: Rolland
authors.forename: P
authors.initials: P
authors.lastname: Cochat
authors.forename: D
authors.initials: D
authors.lastname: Bozon
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000097:blood / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D016254:Mutagenesis, Insertional; D020125:Mutation, Missense / Q000235:genetics*; D000637:Transaminases / Q000097:blood / Q000172:deficiency* / Q000235:genetics*
chemical_list: D000637:Transaminases; C019635:Alanine-glyoxylate transaminase