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

. 2018 Apr 12 ; 6 (4) : 492-503. [epub] 20180412

Status Publisher Jazyk angličtina Země Spojené státy americké Médium print-electronic

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/pmid29649853

Grantová podpora
R01 DK076877 NIDDK NIH HHS - United States

BACKGROUND: The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease. METHODS: To expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males) enrolled in the Fabry Registry (NCT00196742) and compared it with data from 401 patients (237 females, 164 males) harboring mutations associated with classic Fabry disease. We evaluated interventricular septum thickness (IVST), left ventricular posterior wall thickness (LVPWT), estimated glomerular filtration rate and severe clinical events. RESULTS: In p.N215S males, mildly abnormal mean IVST and LVPWT values were observed in patients aged 25-34 years, and values gradually increased with advancing age. Mean values were similar to those of classic males. In p.N215S females, these abnormalities occurred primarily in patients aged 55-64 years. Severe clinical events in p.N215S patients were mainly cardiac (males 31%, females 8%) while renal and cerebrovascular events were rare. Renal impairment occurred in 17% of p.N215S males (mostly in patients aged 65-74 years), and rarely in females (3%). CONCLUSION: p.N215S is a disease-causing mutation with severe clinical manifestations found primarily in the heart. Cardiac involvement may become as severe as in classic Fabry patients, especially in males.

Zobrazit více v PubMed

Arends, M. , Wanner, C. , Hughes, D. , Mehta, A. , Oder, D. , Watkinson, O. T. , … Hollak, C. E. (2017). Characterization of classical and nonclassical Fabry disease: A multicenter study. Journal of the American Society of Nephrology, 28, 1631–1641. 10.1681/ASN.2016090964 PubMed DOI PMC

Desnick, R. J. , Ioannou, Y. A. , & Eng, C. M. (2001). Alpha‐galactosidase A deficiency: Fabry disease In Scriver C. R., Beaudet A. L., Valle D., Sly W. S., Childs B., Kinzler K. W., & Vogelstein B. (Eds.), The metabolic & molecular bases of inherited disease, 8th ed. (pp. 3733–3774). New York, NY: McGraw‐Hill.

den Dunnen, J. T. , Dalgleish, R. , Maglott, D. R. , Hart, R. K. , Greenblatt, M. S. , McGowan‐Jordan, J. , … Taschner, P. E. (2016). HGVS recommendations for the description of sequence variants: 2016 update. Human Mutation, 37, 564–569. 10.1002/humu.22981 PubMed DOI

Echevarria, L. , Benistan, K. , Toussaint, A. , Dubourg, O. , Hagege, A. A. , Eladari, D. , … Germain, D. P. (2016). X‐chromosome inactivation in female patients with Fabry disease. Clinical Genetics, 89, 44–54. 10.1111/cge.12613 PubMed DOI

Elleder, M. , Bradová, V. , Smíd, F. , Budĕsínský, M. , Harzer, K. , Kustermann‐Kuhn, B. , … Dorazilová, V. (1990). Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Virchows Archiv. A, Pathological Anatomy and Histopathology, 417, 449–455. 10.1007/BF01606034 PubMed DOI

Eng, C. M. , Niehaus, D. J. , Enriquez, A. L. , Burgert, T. S. , Ludman, M. D. , & Desnick, R. J. (1994). Fabry disease: Twenty‐three mutations including sense and antisense CpG alterations and identification of a deletional hot‐spot in the alpha‐galactosidase A gene. Human Molecular Genetics, 3, 1795–1799. 10.1093/hmg/3.10.1795 PubMed DOI

Eng, C. , Resnick‐Silverman, L. , Niehaus, D. , Astrin, K. , & Desnick, R. (1993). Nature and frequency of mutations in the alfa‐galactosidase A gene that cause Fabry disease. American Journal of Human Genetics, 53, 1186–1197. PubMed PMC

Fabry disease mutation database (H. Sakuraba). http://fabry-database.org/mutants/. Accessed May 20, 2017.

Fabry Registry website . https://www.fabrycommunity.com/en/Healthcare/Registry.aspx. Accessed May 20, 2017.

Germain, D. P. (2001). A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant. Contributions to Nephrology, 136, 234–240. PubMed

Germain, D. P. (2010). Fabry disease. Orphanet Journal of Rare Diseases, 5, 30 10.1186/1750-1172-5-30 PubMed DOI PMC

Germain, D. P. , Biasotto, M. , Tosi, M. , Meo, T. , Kahn, A. , & Poenaru, L. (1996). Fluorescence‐assisted mismatch analysis (FAMA) for exhaustive screening of the alpha‐galactosidase A gene and detection of carriers in Fabry disease. Human Genetics, 98, 719–726. 10.1007/s004390050292 PubMed DOI

Germain, D. P. , & Jurca‐Simina, I. E. (2018). Principles of human genetics and mendelian inheritance In Burlina A. P. (Ed.), Neurometabolic hereditary diseases of adults: Diagnosis and treatment. Springer International Publishing AG: Springer.

Germain, D. P. , Weidemann, F. , Abiose, A. , Patel, M. R. , Cizmarik, M. , Cole, J. A. , … Fabry Registry . (2013). Analysis of left ventricular mass in untreated men and in men treated with agalsidase‐beta: Data from the Fabry Registry. Genetics in Medicine, 15, 958–965. 10.1038/gim.2013.53 PubMed DOI

Havranek, S. , Linhart, A. , Urbanova, Z. , & Ramaswami, U. (2013). Early cardiac changes in children with Anderson‐Fabry disease. JIMD Reports, 11, 53–64. 10.1007/978-3-642-37328-2 PubMed DOI PMC

Hebert, D. N. , Lamriben, L. , Powers, E. T. , & Kelly, J. W. (2014). The intrinsic and extrinsic effects of N‐linked glycans on glycoproteostasis. Nature Chemical Biology, 10, 902–910. 10.1038/nchembio.1651 PubMed DOI PMC

Hopkin, R. J. , Bissler, J. , Banikazemi, M. , Clarke, L. , Eng, C. M. , Germain, D. P. , … Wilcox, W. R. (2008). Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatric Research, 64, 550–555. 10.1203/PDR.0b013e318183f132 PubMed DOI

Ioannou, Y. A. , Zeidner, K. M. , Grace, M. E. , & Desnick, R. J. (1998). Human alpha‐galactosidase A: Glycosylation site 3 is essential for enzyme solubility. Biochemical Journal, 332, 789–797. 10.1042/bj3320789 PubMed DOI PMC

Ishii, S. , Chang, H. H. , Kawasaki, K. , Yasuda, K. , Wu, H. L. , Garman, S. C. , & Fan, J. Q. (2007). 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. Biochemical Journal, 406, 285–295. 10.1042/BJ20070479 PubMed DOI PMC

Ishii, S. , Kase, R. , Sakuraba, H. , & Suzuki, Y. (1993). Characterization of a mutant alpha‐galactosidase gene product for the late‐onset cardiac form of Fabry disease. Biochemical and Biophysical Research Communications, 197, 1585–1589. 10.1006/bbrc.1993.2659 PubMed DOI

Ishii, S. , Nakao, S. , Minamikawa‐Tachino, R. , Desnick, R. J. , & Fan, J. Q. (2002). Alternative splicing in the alpha‐galactosidase A gene: Increased exon inclusion results in the Fabry cardiac phenotype. American Journal of Human Genetics, 70, 994–1002. 10.1086/339431 PubMed DOI PMC

Ishii, S. , Sakuraba, H. , & Suzuki, Y. (1992). Point mutations in the upstream region of the alpha‐galactosidase A gene exon 6 in an atypical variant of Fabry disease. Human Genetics, 89, 29–32. 10.1007/BF00207037 PubMed DOI

Laney, D. A. , Peck, D. S. , Atherton, A. M. , Manwaring, L. P. , Christensen, K. M. , Shankar, S. P. , … Hopkin, R. J. (2015). Fabry disease in infancy and early childhood: a systematic literature review. Genetics in Medicine, 17, 323–330. 10.1038/gim.2014.120 PubMed DOI

Lang, R. M. , Badano, L. P. , Mor‐Avi, V. , Afilalo, J. , Armstrong, A. , Ernande, L. , … Voigt, J. U. (2015). Recommendations for cardiac chamber quantification by echocardiography in adults: An update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. Journal of the American Society of Echocardiography, 28, 1–39.e14. 10.1016/j.echo.2014.10.003 PubMed DOI

Lee, K. , Jin, X. , Zhang, K. , Copertino, L. , Andrews, L. , Baker‐Malcolm, J. , … Edmunds, T. (2003). A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology, 13, 305–313. 10.1093/glycob/cwg034 PubMed DOI

Lindeman, R. D. , Tobin, J. , & Shock, N. W. (1985). Longitudinal studies on the rate of decline in renal function with age. Journal of the American Geriatrics Society, 33, 278–285. 10.1111/j.1532-5415.1985.tb07117.x PubMed DOI

Mayes, J. S. , Cray, E. L. , Dell, V. A. , Scheerer, J. B. , & Sifers, R. N. (1982). Endocytosis of lysosomal alpha‐galactosidase A by cultured fibroblasts from patients with Fabry disease. American Journal of Human Genetics, 34, 602–610. PubMed PMC

Meehan, S. M. , Junsanto, T. , Rydel, J. J. , & Desnick, R. J. (2004). Fabry disease: Renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications. American Journal of Kidney Diseases, 43, 164–171. 10.1053/j.ajkd.2003.09.022 PubMed DOI

Mehta, A. , Clarke, J. T. , Giugliani, R. , Elliott, P. , Linhart, A. , Beck, M. , … FOS Investigators (2009). Natural course of Fabry disease: Changing pattern of causes of death in FOS ‐ Fabry Outcome Survey. Journal of Medical Genetics, 46, 548–552. 10.1136/jmg.2008.065904 PubMed DOI

Nakao, S. , Takenaka, T. , Maeda, M. , Kodama, C. , Tanaka, A. , Tahara, M. , … Tanaka, H. (1995). An atypical variant of Fabry's disease in men with left ventricular hypertrophy. New England Journal of Medicine, 333, 288–293. 10.1056/NEJM199508033330504 PubMed DOI

Ortiz, A. , Cianciaruso, B. , Cizmarik, M. , Germain, D. P. , Mignani, R. , Oliveira, J. P. , … Warnock, D. G. (2010). End‐stage renal disease in patients with Fabry disease: Natural history data from the Fabry Registry. Nephrology, Dialysis, Transplantation, 25, 769–775. 10.1093/ndt/gfp554 PubMed DOI

Ortiz, A. , Covic, A. , Fliser, D. , Fouque, D. , Goldsmith, D. , Kanbay, M. , … Board of the EURECA‐m Working Group of ERA‐EDTA (2014). London GM; Board of the EURECA‐m Working Group of ERA‐EDTA. Epidemiology, contributors to, and clinical trials of mortality risk in chronic kidney failure. Lancet, 383, 1831–1843. 10.1016/S0140-6736(14)60384-6 PubMed DOI

Ortiz, A. , Oliveira, J. P. , Waldek, S. , Warnock, D. G. , Cianciaruso, B. , Wanner, C. ; Fabry Registry . (2008). Nephropathy in males and females with Fabry disease: Cross‐sectional description of patients before treatment with enzyme replacement therapy. Nephrology, Dialysis, Transplantation, 23, 1600–1607. 10.1093/ndt/gfm848 PubMed DOI

Patel, M. R. , Cecchi, F. , Cizmarik, M. , Kantola, I. , Linhart, A. , Nicholls, K. , … Abiose, A. (2011). Cardiovascular events in patients with fabry disease natural history data from the fabry registry. Journal of the American College of Cardiology, 57, 1093–1099. 10.1016/j.jacc.2010.11.018 PubMed DOI

Patel, V. , O'Mahony, C. , Hughes, D. , Rahman, M. S. , Coats, C. , Murphy, E. , … Elliott, P. M. (2015). Clinical and genetic predictors of major cardiac events in patients with Anderson‐Fabry disease. Heart, 101, 961–966. 10.1136/heartjnl-2014-306782 PubMed DOI

Ramaswami, U. , Whybra, C. , Parini, R. , Pintos‐Morell, G. , Mehta, A. , Sunder‐Plassmann, G. , … FOS European Investigators (2006). Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey. Acta Paediatrica, 95, 86–92. 10.1080/08035250500275022 PubMed DOI

Sachdev, B. , Takenaka, T. , Teraguchi, H. , Tei, C. , Lee, P. , McKenna, W. J. , & Elliott, P. M. (2002). Prevalence of Anderson‐Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation, 105, 1407–1411. 10.1161/01.CIR.0000012626.81324.38 PubMed DOI

Sakuraba, H. , Oshima, A. , Fukuhara, Y. , Shimmoto, M. , Nagao, Y. , Bishop, D. F. , … Suzuki, Y. (1990). Identification of point mutations in the alpha‐galactosidase A gene in classical and atypical hemizygotes with Fabry disease. American Journal of Human Genetics, 47, 784–789. PubMed PMC

von Scheidt, W. , Eng, C. M. , Fitzmaurice, T. F. , Erdmann, E. , Hübner, G. , Olsen, E. G. , … Desnick, R. J. (1991). An atypical variant of Fabry's disease with manifestations confined to the myocardium. New England Journal of Medicine, 324, 395–399. 10.1056/NEJM199102073240607 PubMed DOI

Senechal, M. , & Germain, D. P. (2003). Fabry disease: A functional and anatomical study of cardiac manifestations in 20 hemizygous male patients. Clinical Genetics, 63, 46–52. PubMed

Sims, K. , Politei, J. , Banikazemi, M. , & Lee, P. (2009). Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: Natural history data from the Fabry Registry. Stroke, 40, 788–794. 10.1161/STROKEAHA.108.526293 PubMed DOI

Spada, M. , Pagliardini, S. , Yasuda, M. , Tukel, T. , Thiagarajan, G. , Sakuraba, H. , … Desnick, R. J. (2006). High incidence of later‐onset fabry disease revealed by newborn screening. American Journal of Human Genetics, 79, 31–40. 10.1086/504601 PubMed DOI PMC

Waldek, S. , Patel, M. R. , Banikazemi, M. , Lemay, R. , & Lee, P. (2009). Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry. Genetics in Medicine, 11, 790–796. 10.1097/GIM.0b013e3181bb05bb PubMed DOI

Wilcox, W. R. , Oliveira, J. P. , Hopkin, R. J. , Ortiz, A. , Banikazemi, M. , Feldt‐Rasmussen, U. , … Fabry Registry . (2008). Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry. Molecular Genetics and Metabolism, 93, 112–128. 10.1016/j.ymgme.2007.09.013 PubMed DOI

Yoshitama, T. , Nakao, S. , Takenaka, T. , Teraguchi, H. , Sasaki, T. , Kodama, C. , … Tei, C. (2001). Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease. American Journal of Cardiology, 87, 71–75. 10.1016/S0002-9149(00)01275-3 PubMed DOI

Zobrazit více v PubMed

GENBANK
NCT00196742

Najít záznam

Citační ukazatele

Možnosti archivace