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**Characterization of seven novel mutations in seven patients with GAMT deficiency**: MUTATIONS IN BRIEF by C.B. Item; S. Mercimek-Mahmutoglu; R. Battini; C. Edlinger-Horvat; C. Stromberger; O. Bodamer; A. Mühl; M.A. Vilaseca; H. Korall; S. Stöckler-Ipsiroglu is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Communicated by Mark H. Paalman Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive error of creatine synthesis characterized by cerebral creatine deficiency, accumulation of guanidinoacetate, mental retardation, epilepsy and extrapyramidal signs. So far, six mutations have been identified in seven patients. We investigated seven new patients by screening the promoter, 3 ́UTR, and six exons and exon/intron boundaries using direct sequencing and denaturing gradient gel electrophoresis. The clinical and biochemical phenotype was characterized by scoring the degree of main clinical manifestations and by determination of urinary guanidinoacetate concentrations and of GAMT activity in fibroblasts / lymphoblasts, respectively. We identified 7 novel mutations, including c.64dupG (exon 1; 4/14 alleles); c.59G>C (exon 1; 3/14 alleles); c.491delG (exon 5; 2/14 alleles); c.160G>C (exon 1; 2 / 14 alleles); and c.152A>C (exon 1; 1 / 14 alleles); c.526dupG (exon 5; 1/14 alleles); c.521G>A (exon 5; 1/14 alleles), and two polymorphisms c.626C>T (exon 6) and c.459+71G>A (intron 4). Frameshift and missense mutations in exon 1 were prevalent in the 4 patients with the se

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Author

C.B. Item; S. Mercimek-Mahmutoglu; R. Battini; C. Edlinger-Horvat; C. Stromberger; O. Bodamer; A. Mühl; M.A. Vilaseca; H. Korall; S. Stöckler-Ipsiroglu

Publisher

Hindawi Limited

Published

2004

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)