Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.

Bishop, David F.; Calhoun, David H.; Bernstein, Harold S.; Hantzopoulos, Petros; Quinn, Merrigene; Desnick, Robert J.

doi:10.1073/pnas.83.13.4859

Cited by 180 publications

(97 citation statements)

References 32 publications

(34 reference statements)

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“…Since cDNA of a-GalA was cloned and characterized (Calhoun et aL, 1985;Bishop et aL, 1986), molecular abnormalities in more than one hundred families with Fabry disease have been studied. Bernstein et al (1989) reported that partial gene deletions were seen only seven families out of 130 families by Southern blotting analysis.…”

Section: Discussionmentioning

confidence: 99%

“…1. These primers were designed on the basis of the reported sequence data (Bishop et al, 1986;Kornreich et al, 1989).…”

Section: Methodsmentioning

confidence: 99%

“…Genomic DNA was sequenced in the same method except for primers AG4 and AG7. numbers shown here were defined by Bishop et al (1986). Lane 1, 2HindlII; lanes 2, 4, 6 and 3, 5, 7 were patient's and control's cDNA amplified with primers AG1 and AG3, respectively.…”

Section: Methodsmentioning

confidence: 99%

“…Recently, the full-length cDNA encoding human a-GalA has been isolated and characterized (Calhoun et al, 1985;Bishop et al, 1986Bishop et al, , 1988Kornreich et al, 1989). Since then molecular analysis of this disease has been reported.…”

Section: Introductionmentioning

confidence: 99%

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A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease

et al. 1991

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Section: Discussionmentioning

confidence: 99%

“…1. These primers were designed on the basis of the reported sequence data (Bishop et al, 1986;Kornreich et al, 1989).…”

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease

et al. 1991

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“…The isolation and sequencing of the full-length cDNA and entire 12-kb genomic sequence encoding α-Gal A (Bishop et al 1986;Kornreich et al 1989) has facilitated characterization of the mutations causing Fabry disease. To date, a variety of mutations have been identified, including missense, nonsense, and splice-site mutations, as well as partial gene rearrangements, small deletions, and insertions, e.g., by (see also the Human Gene Mutation Database http:// archive.…”

Section: Introductionmentioning

confidence: 99%

Fabry disease: twenty novel α-galactosidase A mutations causing the classical phenotype

et al. 2001

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Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase, α-galactosidase A (EC 3.2.1.22; α-Gal A). The nature of the molecular lesions in the α-Gal A gene in 40 unrelated families with the classical phenotype (absent α-Gal A activity) was determined in order to provide precise heterozygote detection and prenatal diagnosis, and to explore possible genotype/ phenotype correlations. Genomic DNA was isolated from unrelated affected males, and the entire α-Gal A coding region and flanking intronic sequences were analyzed by polymerase chain reaction (PCR) amplification and automated sequencing. Twenty new mutations were identified: M51K, D92N, D136H, F169S, C172F, L191Q, S247P, Q250X, P259R, G261D, T282N, R301P, W349X, T410K, 124delAT, 842delTAA, 1033delTC, 82insG, 893insG, and 903insG. In the remaining 20 unrelated Fabry families, 17 previously reported mutations were detected. These studies further define the heterogeneity of mutations in the α-Gal A gene causing the classic Fabry disease phenotype, and permit precise heterozygote detection and prenatal diagnosis.

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Fabry disease: Comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)

et al. 1999

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Fabry disease (FD) is an X-linked recessive disorder caused by the deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). Affected males are reliably diagnosed by demonstration of deficient alpha-Gal A activity in plasma or leukocytes. However, identification of female carriers is problematic due to Lyonization, requiring mutation identification and/or linkage studies for accurate carrier detection. Here, we describe a large Brazilian kindred with Fabry disease that permitted comparison of biochemical and molecular diagnostic techniques. Initially, the plasma alpha-Gal A activities were determined in at-risk affected males and potential female carriers; affected males were readily diagnosed, while the females had variable results. To detect carrier females, haplotype analysis using 10 polymorphic markers adjacent to the gene was performed. Subsequently, solid-phase direct sequencing of the alpha-Gal A gene demonstrated a novel single base deletion in exon 1 (30delG). Discrepancies were observed between the enzymatic and molecular diagnoses in two at-risk females. These findings emphasize the need for precise heterozygote diagnosis by mutation and/or haplotype analyses in all families with Fabry disease.

show abstract

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.

Cited by 180 publications

References 32 publications

A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease

A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease

Fabry disease: twenty novel α-galactosidase A mutations causing the classical phenotype

Fabry disease: Comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)

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