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001-es BibID:BIBFORM055200
Első szerző:Mercimek-Mahmutoglu, Saadet
Cím:Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene / Saadet Mercimek-Mahmutoglu, Joseph Ndika, Warsha Kanhai, Thierry Billette de Villemeur, David Cheillan, Ernst Christensen, Nathalie Dorison, Vickie Hannig, Yvonne Hendriks, Floris C. Hofstede, Laurence Lion-Francois, Allan M. Lund, Helen Mundy, Gaele Pitelet, Miquel Raspall-Chaure, Jessica A. Scott-Schwoerer, Katalin Szakszon, Vassili Valayannopoulos, Monique Williams, Gajja S. Salomons
Dátum:2014
ISSN:1059-7794 1098-1004
Megjegyzések:Guanidinoacetate methyltransferase deficiency (GAMT-D) is an autosomal recessively inherited disorder of creatine biosynthesis. Creatine deficiency on cranial proton magnetic resonance spectroscopy, and elevated guanidinoacetate levels in body fluids are the biomarkers of GAMT-D. In 74 patients, 50 different mutations in the GAMT gene have been identified with missense variants being the most common. Clinical and biochemical features of the patients with missense variants were obtained from their physicians using a questionnaire. In 20 patients, 17 missense variants, 25% had a severe, 55% a moderate, and 20% a mild phenotype. The effect of these variants on GAMT enzyme activity was overexpressed using primary GAMT-D fibroblasts: 17 variants retained no significant activity and are therefore considered pathogenic. Two additional variants, c.22C>A (p.Pro8Thr) and c.79T>C (p.Tyr27His) (the latter detected in control cohorts) are in fact not pathogenic as these alleles restored GAMT enzyme activity, although both were predicted to be possibly damaging by in silico analysis. We report 13 new patients with GAMT-D, six novel mutations and functional analysis of 19 missense variants, all being included in our public LOVD database. Our functional assay is important for the confirmation of the pathogenicity of identified missense variants in the GAMT gene.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Human Mutation. - 35 : 4 (2014), p. 462-469. -
További szerzők:Ndika, Joseph Kanhai, Warsha de Villemeur, Thierry Billette Cheillan, David Christensen, Ernst Dorison, Nathalie Hannig, Vickie Hendriks, Yvonne Hofstede, Floris C. Lion-Francois, Laurence Lund, Allan M. Mundy, Helen Pitelet, Gaele Raspall-Chaure, Miquel Scott-Schwoerer, Jessica A. Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Valayannopoulos, Vassili Williams, Monique Salomons, Gajja S.
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