Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.

Kirkilionis, A. J.; Riddell, D. Christie; Spence, Matthew W.; Fenwick, Raymond G.

doi:10.1136/jmg.28.4.232

Cited by 20 publications

(11 citation statements)

References 23 publications

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“…To the latter purpose it should be kept in mind that the tested glycohydrolases are membrane‐bound or associated enzymes, for none of which the cDNA is known at present. Glycohydrolases with available cDNA are the lysosomal α‐Man‐ase [35,36], β‐GlcNAc‐ase [37], β‐Glc‐ase [38,39], α‐Fuc‐ase [40], α‐Gal‐ase [41], α‐Glc‐ase [42], β‐GlcA‐ase [43], and the endoplasmic reticulum [44] and Golgi apparatus [45] α‐Man‐ase. Except for the brush border glycosidases [46], the only plasma membrane‐bound glycohydrolase having coded cDNA is sialidase [47].…”

Section: Discussionmentioning

confidence: 99%

Membrane anchoring and surface distribution of glycohydrolases of human erythrocyte membranes

et al. 2000

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The membrane anchoring of the following glycohydrolases of human erythrocyte plasma membranes was investi-Optimized fluorimetric methods for the assay of these enzymes were set up. Treatment of the ghost preparation with 1.0 mol/l (optimal concentration) NaCl caused release ranging from 4.2% ofTreatment with phosphoinositide-specific phospholipase C caused no liberation of any of the studied glycohydrolases. These results are consistent with the notion that the above glycohydrolases are differently anchored or associated with the erythrocyte plasma membrane, and provide the methodological basis for inspecting the occurrence of these enzymes in different membrane microdomains.z 2000 Federation of European Biochemical Societies.

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Section: Discussionmentioning

confidence: 99%

Membrane anchoring and surface distribution of glycohydrolases of human erythrocyte membranes

et al. 2000

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“…Third, the variability of the clinical manifestations may somehow be related to the nature of the genetic altera tions. Several mutations in the a-Gal gene have been iden tified in Fabry disease [2,6,7,34,36,[39][40][41][42], The frameshift mutation in exon 3, resulting in a premature stop codon in this family, has not been described before and adds to the allelic heterogeneity of Fabry disease; it proba bly results in a truncated, functionally deficient gene product causing the phenotype, as observed in this spe cific pedigree.…”

Section: Discussionmentioning

confidence: 99%

Novel Frameshift Mutation in a Heterozygous Woman with Fabry Disease and End-Stage Renal Failure

Loo

Vanholder

Madsen³

et al. 1996

Am J Nephrol

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It is generally accepted that Fabry disease (angiokeratoma corporis diffusum) is an X-linked disorder resulting from the deficient activity of the lysosomal enzyme α-galactosidase. In males, the enzymatic defect leads to accumulation of glycosphingolipids, particularly in the kidney which causes end-stage renal disease. We report here a woman who presented in 1987 with focal and segmental glomerulosclerosis and required hemodialysis 4 years later when her son was evaluated for proteinuria. In these patients morphologic, biochemical, and genetic investigations were performed to explore the possibility of a hereditary renal disorder. Ultrastructural examination of the son’s renal biopsy specimen revealed lamellated osmiophilic inclusions in the glomeruli, typical of Fabry disease. Four months after kidney transplantation in the mother, a graft biopsy specimen also revealed dense lamellated inclusions on electron microscopy. The leukocyte α-galactosidase activity was 0.008 µmol/min·10⁹ cells in the son and 0.070 in the mother (range 0.100-0.500 µmol/min·10⁹ cells). The diagnosis of Fabry disease was confirmed in both patients by the identification by DNA sequencing of a novel mutation in the α-galactosidase gene: one single base pair deletion in exon 3 (7317delA). In conclusion: (1) end-stage renal disease may occur in heterozygous women with Fabry disease; (2) morphologic lesions due to glycosphingolipid accumulation may be observed in the renal allograft after transplantation, and (3) DNA analysis confirmed the diagnosis by demonstrating a frameshift mutation, which has as yet not been reported.

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“…30 This observation suggests the possibility of multiple origins of the fragile X mutations from a limited number of pre-premutation alleles, 30 31 with additional diversity generated by recombination and mutation of tightly linked microsatellite marker loci. Nova Scotia has long been noted for having a high prevalence of specific rare genetic disorders in various regions, for example, Niemann-Pick type D disease, 32 Huntington disease, 33 Charcot-Marie-Tooth disease, 34 acute intermittent porphyria, 35 Fabry disease, 36 and nephrogenic diabetes insipidus. 37 Common ancestry of aVected subjects in each of these cases has been documented, and molecular analysis supports the conclusion of a founder eVect.…”

Section: Risk Of Multisystem Disease In Isolated Ocular Angioma (Haemmentioning

confidence: 99%

A case of inv dup(8p) with early onset breast cancer

Seltmann¹,

Harrington²,

Ba³

2000

Journal of Medical Genetics

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Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.

Abstract: Fabry disease is an X linked recessive disorder of glycosphingolipid metabolism resulting from a deficiency of the lysosomal hydrolase a-galactosidase

Cited by 20 publications

References 23 publications

Membrane anchoring and surface distribution of glycohydrolases of human erythrocyte membranes

Membrane anchoring and surface distribution of glycohydrolases of human erythrocyte membranes

Novel Frameshift Mutation in a Heterozygous Woman with Fabry Disease and End-Stage Renal Failure

A case of inv dup(8p) with early onset breast cancer

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