Intrafamilial phenotypic variability in four families with anderson-fabry disease

Clinical Genetics

Volumn 86, Issue 3, 2014, Pages 258-263

  Rigoldi, M ^a   Concolino, D ^b   Morrone, A ^c,d   Pieruzzi, F ^a,e   Ravaglia, R ^f   Furlan, F ^a   Santus, F ^a   Strisciuglio, P ^g   Torti, G ^a   Parini, R ^a  

^a SAN GERARDO HOSPITAL   (Italy)

^b UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e UNIVERSITY OF MILANO BICOCCA   (Italy)

^f V BUZZI CHILDREN S HOSPITAL   (Italy)

^g UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Agalsidase alpha; Agalsidase beta; Alpha galactosidase deficiency; Anderson Fabry disease; Fabry; Genetic counselling; GLA gene; Intrafamilial variability; Phenotypic heterogeneity

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA;

ADULT; ARTICLE; CLINICAL ARTICLE; DISEASE COURSE; DISEASE SEVERITY; ENZYME REPLACEMENT; FABRY DISEASE; FAMILIAL DISEASE; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC VARIABILITY; HEMIZYGOTE; HETEROZYGOTE; HUMAN; KIDNEY TRANSPLANTATION; MALE; MEDICAL HISTORY; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; SECOND DEGREE RELATIVE; TARGET ORGAN; TREATMENT DURATION; CASE REPORT; GENETICS; MIDDLE AGED; MISSENSE MUTATION; MORTALITY; PATHOLOGY; PEDIGREE; STATISTICS AND NUMERICAL DATA;

ADULT; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; HEMIZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE;

EID: 84907598116     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12261     Document Type: Article

References (19)

1. Germain D. Fabry disease. Orphanet J Rare Dis 2010: 5: 30.
2. Eng CM, Guffon N, Wilcox WR et al, International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 2001: 345: 9-16.
3. Schiffmann R, Kopp JB, Austin HA et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001: 285: 2743-2749.
4. Ramaswami U, Whybra C, Parini R et al. On behalf of the FOS Investigators: clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006: 95 (1): 86-92.
5. Altarescu GM, Goldfarb LG, Park K-Y et al. Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clin Genet 2001: 60: 46-51.
6. Spence MW, Clarke JT, D'Entremont DM et al. Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia. J Med Genet 1978: 15 (6): 428-434.
7. Veronik F, Benko D, Ejiofor Avujkovac B et al. Remarkable variability in renal disease in a large Slovenian family with Fabry disease. Eur J Hum Genet 2004: 12: 678-681.
8. Morrone A, Cavicchi C, Bardelli T et al. Fabry disease: molecular studies in Italian patients and X-inactivation analysis in manifesting carriers. J Med Genet 2003: 40: e103.
9. Elstein D, Schachamorov E, Beeri R et al. X-inactivation in Fabry disease. Gene 2012: 505 (2): 266-268.
10. Whybra C, Kampmann C, Krummenauer F et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 2004: 65 (4): 299-307.
11. Aerts JM, Groener JE, Kuiper S et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 2008: 105 (8): 2812-2817.
12. van Breemen MJ, Rombach SM, Dekker N et al. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim Biophys Acta 2011: 1812: 70-76.
13. th, 2013.
14. Orteu CH, Jansent T, Lidove O et al. On behalf of the FOS Investigators: Fabry disease and the skin: data from FOS, the Fabry Outcome survey. Br J Dermatol 2007: 157: 331-337.
15. Ashton-Prolla P, Tong B, Shabbeer J et al. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med 2000: 48: 227-235.
16. Kase R, Bierfreund U, Klein A et al. Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. Biochim Biophys Acta 2000: 1501: 227-235.
17. Maire I. Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases? J Inherit Metab Dis 2001: 24 (Suppl. 2): 57-61.
18. Heltianu C, Costache G, Azibi K et al. Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease. Clin Genet 2002: 6 (61): 423-429.
19. Altarescu G, Moore D, Schiffmann R et al. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 2005: 64 (12): 2148-2150.