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Journal of genetic medicine v.15 no.1, 2018년, pp.28 - 33  
본 등재정보는 저널의 등재정보를 참고하여 보여주는 베타서비스로 정확한 논문의 등재여부는 등재기관에 확인하시기 바랍니다.

A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease

Kwon, Soonhak   (Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University  ); Park, Jin-Sung   (Department of Neurology, Kyungpook National University Hospital, School of Medicine, Kyungpook National University  ); Jung, Jae Hun   (Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University  ); Hwang, Su Kyeong   (Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University  ); Kim, Yeo Hyang   (Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University  ); Lee, Yun Jeong   (Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University  );
  • 초록

    Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of ${\alpha}$ -galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma ${\alpha}$ -galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.


  • 주제어

    Fabry disease .   Lysosomal storage diseases .   ${\alpha}$-Galactosidase.  

  • 참고문헌 (17)

    1. Desnick RJ. Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval. Expert Opin Biol Ther 2004;4:1167-76. 
    2. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001;38:750-60. 
    3. Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007;30:184-92. 
    4. Politei JM, Bouhassira D, Germain DP, Goizet C, Guerrero-Sola A, Hilz MJ, et al. Pain in Fabry disease: practical recommendations for diagnosis and treatment. CNS Neurosci Ther 2016;22:568-76. 
    5. Cammarata G, Fatuzzo P, Rodolico MS, Colomba P, Sicurella L, Iemolo F, et al. High variability of Fabry disease manifestations in an extended Italian family. Biomed Res Int 2015;2015:504784. 
    6. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004;34:236-42. 
    7. Choi JH, Cho YM, Suh KS, Yoon HR, Kim GH, Kim SS, et al. Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease. J Korean Med Sci 2008;23:243-50. 
    8. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138:338-46. 
    9. Kampmann C, Linhart A, Baehner F, Palecek T, Wiethoff CM, Miebach E, et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 2008;130:367-73. 
    10. Wilson HC, Hopkin RJ, Madueme PC, Czosek RJ, Bailey LA, Taylor MD, et al. Arrhythmia and clinical cardiac findings in children with Anderson-Fabry disease. Am J Cardiol 2017;120:251-5. 
    11. Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 2008;64:550-5. 
    12. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001;38:769-75. 
    13. Sharp A, Robinson D, Jacobs P. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet 2000;107:343-9. 
    14. Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RP, Wevers RA, Salvayre R, Levade T. Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. J Med Genet 1996;33:682-8. 
    15. Togawa T, Kodama T, Suzuki T, Sugawara K, Tsukimura T, Ohashi T, et al. Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Mol Genet Metab 2010;100:257-61. 
    16. Nowak A, Mechtler TP, Desnick RJ, Kasper DC. Plasma LysoGb3: a useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes. Mol Genet Metab 2017;120:57-61. 
    17. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-24. 

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