Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

Journal of Human Genetics
G A AshleyR J Desnick

Abstract

Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase, alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A). The nature of the molecular lesions in the alpha-Gal A gene in 40 unrelated families with the classical phenotype (absent alpha-Gal A activity) was determined in order to provide precise heterozygote detection and prenatal diagnosis, and to explore possible genotype/phenotype correlations. Genomic DNA was isolated from unrelated affected males, and the entire alpha-Gal A coding region and flanking intronic sequences were analyzed by polymerase chain reaction (PCR) amplification and automated sequencing. Twenty new mutations were identified: M51K, D92N, D136H, F169S, C172F, L191Q, S247P, Q250X, P259R, G261D, T282N, R301P, W349X, T410K, 124delAT, 842delTAA, 1033delTC, 82insG, 893insG, and 903insG. In the remaining 20 unrelated Fabry families, 17 previously reported mutations were detected. These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing the classic Fabry disease phenotype, and permit precise heterozygote detection and prenatal diagnosis.

Citations

Jul 18, 2008·Journal of Human Genetics·Kanako SugawaraHitoshi Sakuraba
Oct 25, 2012·Internal and Emergency Medicine·Francesca Carubbi, Lisa Bonilauri
May 4, 2012·Journal of Human Genetics·Lauro Thiago TuraçaJoão Bosco Pesquero
Nov 26, 2010·Orphanet Journal of Rare Diseases·Dominique P Germain
Oct 19, 2011·Orphanet Journal of Rare Diseases·Giuseppina AndreottiMaria Vittoria Cubellis
Mar 13, 2014·Biochimica Et Biophysica Acta·Hila ZigdonAnthony H Futerman
Nov 28, 2008·Kidney International·Thomas ThomaidisAndreas Schwarting
Aug 2, 2015·Heart Failure Reviews·Aashish SharmaClaudio Ronco
Nov 2, 2014·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Manuel NistalMiguel Reyes-Múgica
Aug 24, 2007·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·F S PereiraU S Matte
Aug 2, 2014·Molecular Genetics and Metabolism Reports·Takahiro TsukimuraHitoshi Sakuraba
Jan 17, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Raymond Y WangWilliam R Wilcox
Oct 1, 2009·Human Mutation·Tse Siang Kang, Raymond C Stevens
Mar 30, 2007·Acta Paediatrica. Supplement·Scott C Garman
May 30, 2002·Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research·Grace A AshleyJon W Gordon
May 26, 2010·European Journal of Heart Failure·Ole HavndrupHenning Bundgaard
Feb 8, 2005·Clinical Chemistry·Maria FullerPeter J Meikle
Oct 7, 2003·Annual Review of Genomics and Human Genetics·Gregory A Grabowski, Robert J Hopkin
Mar 18, 2020·The Journal of Biological Chemistry·Satoshi IshiiHiroki Maruyama
Jan 22, 2013·Optometry and Vision Science : Official Publication of the American Academy of Optometry·Melanie D Sivley
May 15, 2015·Clinical Genetics·L EchevarriaD P Germain
May 9, 2003·Journal of Genetic Counseling·Robin L BennettRavi Thadhani
Jul 20, 2019·Molecular Genetics & Genomic Medicine·Ping LiChangxin Wu
May 27, 2009·Molecular Diversity·Shaomin Yan, Guang Wu
Aug 17, 2020·Molecular Genetics & Genomic Medicine·Yi LuoMin Shen
Dec 31, 2020·Diseases·Maria L Gonzalez SuarezWisit Cheungpasitporn

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