New mutations in the GLA gene in Brazilian families with Fabry disease

Journal of Human Genetics
Lauro Thiago TuraçaJoão Bosco Pesquero

Abstract

Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs the diagnosis of the disease, but in female carriers the diagnosis based only on enzyme assays is often inconclusive. In this work, we analyzed 568 individuals from 102 families with suspect of FD. Overall, 51 families presented 38 alterations in the GLA gene, among which 19 were not previously reported in literature. The alterations included 17 missense mutations, 7 nonsense mutations, 7 deletions, 6 insertions and 1 in the splice site. Six alterations (R112C, R118C, R220X, R227X, R342Q and R356W) occurred at CpG dinucleotides. Five mutations not previously described in the literature (A156D, K237X, A292V, I317S, c.1177_1178insG) were correlated with low GLA enzyme activity and with prediction of molecular damages. From the 13 deletions and insertions, 7 occurred in exons 6 or 7 (54%) and 11 led to the formation of a stop codon. The present study highlights the detection of new genomic alterations in the GLA gene in the Brazilian population, facilitating the selection of patients for recombinant enzyme-replaceme...Continue Reading

References

Apr 1, 1989·The Journal of Clinical Investigation·H S BernsteinR J Desnick
Apr 25, 1989·Nucleic Acids Research·R KornreichD F Bishop
Jun 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·D F BishopR J Desnick
Jul 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·D F BishopR J Desnick
Feb 1, 1988·Human Genetics·D N Cooper, H Youssoufian
Mar 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·P H YenL J Shapiro
Jan 1, 1983·Annual Review of Genetics·S M Gartler, A D Riggs
Jan 1, 1984·Journal of Inherited Metabolic Disease·S Schoos-BarbetteC Lambotte
Mar 1, 1994·Human Molecular Genetics·J K Ploos van AmstelR A Wevers
Apr 1, 1994·Human Molecular Genetics·J DaviesS Malcolm
Jul 1, 1993·Human Molecular Genetics·J P DaviesS Malcolm
Jan 29, 1998·The New England Journal of Medicine·J M Puck, H F Willard
Jan 26, 1999·JAMA : the Journal of the American Medical Association·P J MeikleW F Carey
Apr 27, 2001·Journal of Human Genetics·G A AshleyR J Desnick
Jun 21, 2001·JAMA : the Journal of the American Medical Association·R SchiffmannR O Brady
Jul 7, 2001·The New England Journal of Medicine·C M EngUNKNOWN International Collaborative Fabry Disease Study Group
Jul 10, 2001·Somatic Cell and Molecular Genetics·J GanR A Steinberg
Oct 23, 2001·Human Mutation·D BlaydonB Winchester
Jan 24, 2002·Journal of Inherited Metabolic Disease·C WhybraM Beck
Aug 15, 2002·Molecular Genetics and Metabolism·Junaid ShabbeerRobert J Desnick
Oct 3, 2002·Molecular Genetics and Metabolism·Scott C Garman, David N Garboczi
Apr 5, 2003·Journal of Medical Genetics·N Guffon
Aug 24, 2007·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·F S PereiraU S Matte
Mar 26, 2009·Pharmacology & Therapeutics·Raphael Schiffmann
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Oct 14, 2010·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Elice Carneiro BatistaJoão Bosco Pesquero

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Citations

Mar 4, 2014·Clinical Biochemistry·Gabriela PasqualimUrsula Matte
Feb 15, 2015·Gene·Lauro Thiago TuraçaJoão Bosco Pesquero
Apr 11, 2018·Orphanet Journal of Rare Diseases·Irene VieitezSaida Ortolano
Jan 8, 2020·Advances in Rheumatology·Nilton Salles Rosa NetoRosa Maria Rodrigues Pereira
Sep 6, 2019·International Journal of Molecular Sciences·Vo Van GiauSang Yun Kim
Sep 20, 2020·European Journal of Human Genetics : EJHG·Cosimo Andrea StamerraClaudio Ferri
Oct 16, 2019·Frontiers in Genetics·Patrícia VarelaJoão Bosco Pesquero
Jul 29, 2020·Journal of Neurology·C SimonciniMichelangelo Mancuso
Nov 7, 2020·Metabolic Brain Disease·Patrícia VarelaJoão Bosco Pesquero

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