GLA c.888G>A ;(p.M296I)

Variant ID: X-100653469-C-T

NM_000169.2(GLA):c.888G>A;(p.M296I)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure.

Clinical Kidney Journal
de Haan, Amber A; Morel, Chantal F CF; Eijgelsheim, Mark M; de Jong, Margriet F C MFC; Broekroelofs, Jan J; Vogt, Liffert L; Knoers, Nine V A M NVAM; de Borst, Martin H MH
Publication Date: 2023-04

Variant appearance in text: GLA: M296I
PubMed Link: 37007699
Variant Present in the following documents:
  • sfac269.pdf
View BVdb publication page



α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.

Molecular Genetics And Metabolism Reports
Consolato, Francesco F; De Fusco, Maurizio M; Schaeffer, Céline C; Pieruzzi, Federico F; Scolari, Francesco F; Gallieni, Maurizio M; Lanzani, Chiara C; Feriozzi, Sandro S; Rampoldi, Luca L
Publication Date: 2022-12

Variant appearance in text: GLA: M296I
PubMed Link: 36345359
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.

Frontiers In Pediatrics
Muntean, Carmen C; Starcea, Iuliana Magdalena IM; Stoica, Cristina C; Banescu, Claudia C
Publication Date: 2022

Variant appearance in text: GLA: M296I
PubMed Link: 35722479
Variant Present in the following documents:
  • Main text
  • fped-10-908657.pdf
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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: GLA: 888G>A
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)
Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K
Publication Date: 2021-09-27

Variant appearance in text: GLA: M296I
PubMed Link: 34679477
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01779.pdf
View BVdb publication page



Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-11-09

Variant appearance in text: GLA: Met296Ile
PubMed Link: 34535801
Variant Present in the following documents:
  • Main text
  • gfab234.pdf
View BVdb publication page



Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-12-31

Variant appearance in text: GLA: Met296Ile
PubMed Link: 34282462
Variant Present in the following documents:
  • Main text
  • gfaa324.pdf
View BVdb publication page



Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-07-19

Variant appearance in text: GLA: Met296Ile
PubMed Link: 34282462
Variant Present in the following documents:
  • Main text
  • gfaa324.pdf
View BVdb publication page



Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.

International Journal Of Molecular Sciences
Modrego, Andrea A; Amaranto, Marilla M; Godino, Agustina A; Mendoza, Rosa R; Barra, José Luis JL; Corchero, José Luis JL
Publication Date: 2021-06-17

Variant appearance in text: GLA: M296I
PubMed Link: 34204583
Variant Present in the following documents:
  • Main text
  • ijms-22-06518.pdf
View BVdb publication page



Case Report: First Two Identified Cases of Fabry Disease in Central Asia.

Frontiers In Genetics
Cainelli, Francesca F; Argandykov, Dias D; Kaldarbekov, Dauren D; Mukarov, Murat M; Tran Thi Phuong, Liên L; Germain, Dominique P DP
Publication Date: 2021

Variant appearance in text: GLA: Met296Ile
PubMed Link: 33986771
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fabry Disease and the Heart: A Comprehensive Review.

International Journal Of Molecular Sciences
Azevedo, Olga O; Cordeiro, Filipa F; Gago, Miguel Fernandes MF; Miltenberger-Miltenyi, Gabriel G; Ferreira, Catarina C; Sousa, Nuno N; Cunha, Damião D
Publication Date: 2021-04-23

Variant appearance in text: GLA: M296I
PubMed Link: 33922740
Variant Present in the following documents:
  • Main text
View BVdb publication page



The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.

Molecular Genetics & Genomic Medicine
Germain, Dominique P DP; Moiseev, Sergey S; Suárez-Obando, Fernando F; Al Ismaili, Faisal F; Al Khawaja, Huda H; Altarescu, Gheona G; Barreto, Fellype C FC; Haddoum, Farid F; Hadipour, Fatemeh F; Maksimova, Irina I; Kramis, Mirelle M; Nampoothiri, Sheela S; Nguyen, Khanh Ngoc KN; Niu, Dau-Ming DM; Politei, Juan J; Ro, Long-Sun LS; Vu Chi, Dung D; Chen, Nan N; Kutsev, Sergey S
Publication Date: 2021-05

Variant appearance in text: GLA: M296I
PubMed Link: 33835733
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1666.pdf
View BVdb publication page



The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.

International Journal Of Molecular Sciences
Sorriento, Daniela D; Iaccarino, Guido G
Publication Date: 2021-01-29

Variant appearance in text: GLA: M296I
PubMed Link: 33572752
Variant Present in the following documents:
  • Main text
  • ijms-22-01331.pdf
View BVdb publication page



Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.

Molecular Genetics And Metabolism Reports
Tsukimura, Takahiro T; Tayama, Yuya Y; Shiga, Tomoko T; Hirai, Kanako K; Togawa, Tadayasu T; Sakuraba, Hitoshi H
Publication Date: 2020-12

Variant appearance in text: GLA: M296I
PubMed Link: 33072516
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report.

Renal Failure
Zhang, Ruixiao R; Chen, Zeqing Z; Lang, Yanhua Y; Shao, Shihong S; Cai, Yan Y; You, Qingqing Q; Sun, Yan Y; Wang, Sai S; Shi, Xiaomeng X; Liu, Zhiying Z; Guo, Wencong W; Han, Yue Y; Shao, Leping L
Publication Date: 2020-11

Variant appearance in text: GLA: M296I
PubMed Link: 32924720
Variant Present in the following documents:
  • Main text
  • IRNF_42_1818578.pdf
View BVdb publication page



Fabry disease screening in high-risk populations in Japan: a nationwide study.

Orphanet Journal Of Rare Diseases
Yoshida, Shinichiro S; Kido, Jun J; Sawada, Takaaki T; Momosaki, Ken K; Sugawara, Keishin K; Matsumoto, Shirou S; Endo, Fumio F; Nakamura, Kimitoshi K
Publication Date: 2020-08-26

Variant appearance in text: GLA: 888G>A; M296I
PubMed Link: 32843101
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1494.pdf
View BVdb publication page



Newborn screening for Fabry disease in the western region of Japan.

Molecular Genetics And Metabolism Reports
Sawada, Takaaki T; Kido, Jun J; Yoshida, Shinichiro S; Sugawara, Keishin K; Momosaki, Ken K; Inoue, Takahito T; Tajima, Go G; Sawada, Hirotake H; Mastumoto, Shirou S; Endo, Fumio F; Hirose, Shinichi S; Nakamura, Kimitoshi K
Publication Date: 2020-03

Variant appearance in text: GLA: 888G>A; M296I
PubMed Link: 31956509
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review.

Bmc Nephrology
Fujisawa, Hironobu H; Nakayama, Yosuke Y; Nakao, Shoichiro S; Yamamoto, Ryo R; Kurokawa, Yuka Y; Nakamura, Nao N; Nagata, Akiko A; Tsukimura, Takahiro T; Togawa, Tadayasu T; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2019-12-17

Variant appearance in text: GLA: M296I
PubMed Link: 31847900
Variant Present in the following documents:
  • Main text
  • 12882_2019_Article_1657.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GLA: M296I
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Generation of GLA-Knockout Human Embryonic Stem Cell Lines to Model Autophagic Dysfunction and Exosome Secretion in Fabry Disease-Associated Hypertrophic Cardiomyopathy.

Cells
Song, Hui-Yung HY; Chien, Chian-Shiu CS; Yarmishyn, Aliaksandr A AA; Chou, Shih-Jie SJ; Yang, Yi-Ping YP; Wang, Mong-Lien ML; Wang, Chien-Ying CY; Leu, Hsin-Bang HB; Yu, Wen-Chung WC; Chang, Yuh-Lih YL; Chiou, Shih-Hwa SH
Publication Date: 2019-04-08

Variant appearance in text: GLA: M296I
PubMed Link: 30965672
Variant Present in the following documents:
  • cells-08-00327.pdf
View BVdb publication page



Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant.

Jimd Reports
Talbot, Andrew A; Nicholls, Kathy K
Publication Date: 2019

Variant appearance in text: GLA: M296I
PubMed Link: 30569317
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fabry disease in a Japanese population-molecular and biochemical characteristics.

Molecular Genetics And Metabolism Reports
Sakuraba, Hitoshi H; Tsukimura, Takahiro T; Togawa, Tadayasu T; Tanaka, Toshie T; Ohtsuka, Tomoko T; Sato, Atsuko A; Shiga, Tomoko T; Saito, Seiji S; Ohno, Kazuki K
Publication Date: 2018-12

Variant appearance in text: GLA: 888G>A; M296I
PubMed Link: 30386727
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.

Molecular Genetics & Genomic Medicine
Germain, Dominique P DP; Brand, Eva E; Burlina, Alessandro A; Cecchi, Franco F; Garman, Scott C SC; Kempf, Judy J; Laney, Dawn A DA; Linhart, Aleš A; Maródi, László L; Nicholls, Kathy K; Ortiz, Alberto A; Pieruzzi, Federico F; Shankar, Suma P SP; Waldek, Stephen S; Wanner, Christoph C; Jovanovic, Ana A
Publication Date: 2018-04-12

Variant appearance in text: GLA: M296I
PubMed Link: 29649853
Variant Present in the following documents:
  • Main text
  • MGG3-6-492.pdf
View BVdb publication page



Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now.

Diseases (Basel, Switzerland)
Beirão, Idalina I; Cabrita, Ana A; Torres, Márcia M; Silva, Fernando F; Aguiar, Patrício P; Laranjeira, Francisco F; Gomes, Ana Marta AM
Publication Date: 2017-06-11

Variant appearance in text: GLA: M296I
PubMed Link: 28933368
Variant Present in the following documents:
  • Main text
  • diseases-05-00015.pdf
View BVdb publication page



The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

International Journal Of Molecular Sciences
Citro, Valentina V; Cammisa, Marco M; Liguori, Ludovica L; Cimmaruta, Chiara C; Lukas, Jan J; Cubellis, Maria Vittoria MV; Andreotti, Giuseppina G
Publication Date: 2016-12-01

Variant appearance in text: GLA: M296I
PubMed Link: 27916943
Variant Present in the following documents:
  • Main text
  • ijms-17-02010.pdf
View BVdb publication page



Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.

Molecular Genetics And Metabolism Reports
Tsukimura, Takahiro T; Nakano, Sachie S; Togawa, Tadayasu T; Tanaka, Toshie T; Saito, Seiji S; Ohno, Kazuki K; Shibasaki, Futoshi F; Sakuraba, Hitoshi H
Publication Date: 2014

Variant appearance in text: GLA: M296I
PubMed Link: 27896103
Variant Present in the following documents:
  • Main text
View BVdb publication page



Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Journal Of Medical Genetics
Hughes, Derralynn A DA; Nicholls, Kathleen K; Shankar, Suma P SP; Sunder-Plassmann, Gere G; Koeller, David D; Nedd, Khan K; Vockley, Gerard G; Hamazaki, Takashi T; Lachmann, Robin R; Ohashi, Toya T; Olivotto, Iacopo I; Sakai, Norio N; Deegan, Patrick P; Dimmock, David D; Eyskens, François F; Germain, Dominique P DP; Goker-Alpan, Ozlem O; Hachulla, Eric E; Jovanovic, Ana A; Lourenco, Charles M CM; Narita, Ichiei I; Thomas, Mark M; Wilcox, William R WR; Bichet, Daniel G DG; Schiffmann, Raphael R; Ludington, Elizabeth E; Viereck, Christopher C; Kirk, John J; Yu, Julie J; Johnson, Franklin F; Boudes, Pol P; Benjamin, Elfrida R ER; Lockhart, David J DJ; Barlow, Carrolee C; Skuban, Nina N; Castelli, Jeffrey P JP; Barth, Jay J; Feldt-Rasmussen, Ulla U
Publication Date: 2017-04

Variant appearance in text: GLA: M296I
PubMed Link: 27834756
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Plos One
Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N
Publication Date: 2016

Variant appearance in text: GLA: M296I
PubMed Link: 27560961
Variant Present in the following documents:
  • Main text
  • pone.0161330.pdf
View BVdb publication page



Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

Orphanet Journal Of Rare Diseases
Lenders, Malte M; Weidemann, Frank F; Kurschat, Christine C; Canaan-Kühl, Sima S; Duning, Thomas T; Stypmann, Jörg J; Schmitz, Boris B; Reiermann, Stefanie S; Krämer, Johannes J; Blaschke, Daniela D; Wanner, Christoph C; Brand, Stefan-Martin SM; Brand, Eva E
Publication Date: 2016-05-04

Variant appearance in text: GLA: M296I
PubMed Link: 27142856
Variant Present in the following documents:
  • 13023_2016_Article_441.pdf
View BVdb publication page



Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.

Molecular Genetics And Metabolism Reports
Serebrinsky, G G; Calvo, M M; Fernandez, S S; Saito, S S; Ohno, K K; Wallace, E E; Warnock, D D; Sakuraba, H H; Politei, J J
Publication Date: 2015-09

Variant appearance in text: GLA: Met296Ile
PubMed Link: 26937405
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: GLA: M296I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy.

Plos One
Nakano, Sachie S; Tsukimura, Takahiro T; Togawa, Tadayasu T; Ohashi, Toya T; Kobayashi, Masahisa M; Takayama, Katsuyoshi K; Kobayashi, Yukuharu Y; Abiko, Hiroshi H; Satou, Masatsugu M; Nakahata, Tohru T; Warnock, David G DG; Sakuraba, Hitoshi H; Shibasaki, Futoshi F
Publication Date: 2015

Variant appearance in text: GLA: M296I
PubMed Link: 26083343
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.

Plos One
Sueoka, Hideaki H; Ichihara, Junji J; Tsukimura, Takahiro T; Togawa, Tadayasu T; Sakuraba, Hitoshi H
Publication Date: 2015

Variant appearance in text: GLA: M296I
PubMed Link: 25965380
Variant Present in the following documents:
  • Main text
  • pone.0127048.pdf
View BVdb publication page



Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.

Orphanet Journal Of Rare Diseases
Schelleckes, Michael M; Lenders, Malte M; Guske, Katrin K; Schmitz, Boris B; Tanislav, Christian C; Ständer, Sonja S; Metze, Dieter D; Katona, Istvan I; Weis, Joachim J; Brand, Stefan-Martin SM; Duning, Thomas T; Brand, Eva E
Publication Date: 2014-11-26

Variant appearance in text: N/A
PubMed Link: 25423912
Variant Present in the following documents:
View BVdb publication page



Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).

Orphanet Journal Of Rare Diseases
Hsu, Ting-Rong TR; Sung, Shih-Hsien SH; Chang, Fu-Pang FP; Yang, Chia-Feng CF; Liu, Hao-Chuan HC; Lin, Hsiang-Yu HY; Huang, Chun-Kai CK; Gao, He-Jin HJ; Huang, Yu-Hsiu YH; Liao, Hsuan-Chieh HC; Lee, Pi-Chang PC; Yang, An-Hang AH; Chiang, Chuan-Chi CC; Lin, Ching-Yuang CY; Yu, Wen-Chung WC; Niu, Dau-Ming DM
Publication Date: 2014-07-01

Variant appearance in text: GLA: M296I
PubMed Link: 24980630
Variant Present in the following documents:
  • 1750-1172-9-96.pdf
View BVdb publication page



Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One
Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H
Publication Date: 2013

Variant appearance in text: GLA: M296I
PubMed Link: 24386359
Variant Present in the following documents:
  • Main text
  • pone.0084267.pdf
View BVdb publication page



Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.

Plos One
Young-Gqamana, Brandy B; Brignol, Nastry N; Chang, Hui-Hwa HH; Khanna, Richie R; Soska, Rebecca R; Fuller, Maria M; Sitaraman, Sheela A SA; Germain, Dominique P DP; Giugliani, Roberto R; Hughes, Derralynn A DA; Mehta, Atul A; Nicholls, Kathy K; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER
Publication Date: 2013

Variant appearance in text: GLA: M296I
PubMed Link: 23472096
Variant Present in the following documents:
  • Main text
  • pone.0057631.pdf
View BVdb publication page



A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Human Mutation
Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER
Publication Date: 2011-08

Variant appearance in text: GLA: 888G>A; M296I
PubMed Link: 21598360
Variant Present in the following documents:
  • Main text
  • humu0032-0965.pdf
View BVdb publication page



Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

The Biochemical Journal
Ishii, Satoshi S; Chang, Hui-Hwa HH; Kawasaki, Kunito K; Yasuda, Kayo K; Wu, Hui-Li HL; Garman, Scott C SC; Fan, Jian-Qiang JQ
Publication Date: 2007-09-01

Variant appearance in text: GLA: M296I
PubMed Link: 17555407
Variant Present in the following documents:
  • Main text
View BVdb publication page