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Titolo:
A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease
Autore:
Konoshita, T; Mutoh, H; Yokoi, T; Koni, I; Miyamori, I; Mabuchi, H;
Indirizzi:
Fukui Med Univ, Dept Internal Med 3, Fukui 9101193, Japan Fukui Med Univ Fukui Japan 9101193 Internal Med 3, Fukui 9101193, Japan Kanazawa Univ, Sch Med, Dept Internal Med 2, Kanazawa, Ishikawa 920, JapanKanazawa Univ Kanazawa Ishikawa Japan 920 , Kanazawa, Ishikawa 920, Japan Kanazawa Univ, Sch Med, Dept Pediat, Kanazawa, Ishikawa 920, Japan Kanazawa Univ Kanazawa Ishikawa Japan 920 , Kanazawa, Ishikawa 920, Japan
Titolo Testata:
CLINICAL NEPHROLOGY
fascicolo: 3, volume: 55, anno: 2001,
pagine: 243 - 247
SICI:
0301-0430(200103)55:3<243:AMMAIT>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
A-GENE; POINT MUTATION; NUCLEOTIDE-SEQUENCE; ATYPICAL VARIANT; IDENTIFICATION; FAMILIES; HEMIZYGOTES; ENZYME; CDNA;
Keywords:
Fabry disease; alpha-galactosidase A; point mutation; RT-PCR analysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Konoshita, T Fukui Med Univ, Dept Internal Med 3, 23-3 Shimoaizuki, Fukui 9101193, Japan Fukui Med Univ 23-3 Shimoaizuki Fukui Japan 9101193 3, Japan
Citazione:
T. Konoshita et al., "A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease", CLIN NEPHR, 55(3), 2001, pp. 243-247

Abstract

Aims: Fabry disease is a rare but important cause of end-stage renal disease. Recent molecular investigations on alpha -galactosidase A (alpha -Gal A) have proven the existence of atypical variants in Fabry disease, making genotype assessment of each phenotype indispensable. We report here a missense mutation, which causes a typical form of Fabry disease. Material and methods: The proband, a 45-year-old man, presented with acroparesthesias, hypohidrosis, left ventricular hypertrophy, renal involvement (proteinuria and renal insufficiency) with typical microscopic findings and extremely reduced plasma alpha -Gal A activity, indicating the typical form of the disease. Total RNA was isolated from the proband's cultured fibroblasts, reverse-transcribed and amplified for direct sequencing of alpha -Gal A. Genomic. DNAof the proband's mother and 75 controls (50 males and 25 females) living in the same area as the proband was also examined. Results: Sequencing of the cDNA revealed a substitution of G to A in codon 156 of alpha -GalA, resulting in a single amino acid change from alanine to threonine (A156T). The mutation can be detected with PCR-RFLP with SfaNI digestion. This technique revealed that the mother was a heterozygote of A156T with no A156T noted inthe 100 haplotypes of the controls. With a vigorous search of the same mutation in the literature, no previous description was found other than one case listed in several review papers as a classic phenotype without any other information. In our study, we examined A156T in a pedigree and demonstrated that the mutation was not a polymorphic variant in our area. Conclusion:Taken together, the present results strongly suggest that the missense mutation A156T, in the alpha -Gal A gene causes typical Fabry disease.

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Documento generato il 30/11/20 alle ore 16:51:16