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Mutant <jats:italic>AGXT<\/jats:italic> leads to excess production and excretion of oxalate, resulting in accumulation of calcium oxalate in the kidney, and progressive loss of renal function. Brachydactyly mental retardation syndrome (BDMR) is an autosomal dominant disorder, caused by haploinsufficiency of histone deacetylase 4 (<jats:italic>HDAC4<\/jats:italic>), also on chromosome 2q37. It is characterized by skeletal abnormalities and developmental delay. Here, we report on a girl who had phenotypes of both PH1 and BDMR. PCR\u2010sequencing of the coding regions of <jats:italic>AGXT<\/jats:italic> showed a novel missense mutation, c.32C&gt;G (p.Pro11Arg) inherited from her mother. Functional analyses demonstrated that it reduced the enzymatic activity to 31% of the wild\u2010type and redirected some percentage of the enzyme away from the peroxisome. Microsatellite and array\u2010CGH analyses indicated that the proband had a paternal de novo telomeric deletion of chromosome 2q, which included <jats:italic>HDAC4<\/jats:italic>. To our knowledge, this is the first report of PH1 and BDMR, with a novel <jats:italic>AGXT<\/jats:italic> mutation and a de novo telomeric deletion of chromosome 2q. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35495","type":"journal-article","created":{"date-parts":[[2012,7,21]],"date-time":"2012-07-21T08:38:01Z","timestamp":1342859881000},"page":"2124-2130","source":"Crossref","is-referenced-by-count":11,"title":["Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in <i>AGXT<\/i> and a terminal deletion of chromosome 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