ArticleMolecular medicine (Cambridge, Mass.)1997
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Article in Molecular medicine (Cambridge, Mass.), 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 125 citations in OpenAlex.
- Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.Journal of medical genetics · 2016Trial
- Newborn screening for Fabry disease in Japan: an additional 3-year report.Molecular genetics and metabolism reports · 2026Article
- Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.Human genome variation · 2026Article
- Pathogenic mechanisms in Fabry disease.Frontiers in medicine · 2026Review
- Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy.Molecular genetics and metabolism reports · 2025Article
- Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.Human genomics · 2024Article
- Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.Genes · 2023Article
- Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.Metabolic brain disease · 2023Article
- Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism?Balkan journal of medical genetics : BJMG · 2023Article
- Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.Journal of clinical medicine · 2022Article
- Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.Journal of personalized medicine · 2022Article
- Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.Clinical genetics · 2022Review
- Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective.Orphanet journal of rare diseases · 2022Review
- Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.Journal of clinical medicine · 2021Article
- Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.Current issues in molecular biology · 2021Article
- Fabry Disease and the Heart: A Comprehensive Review.International journal of molecular sciences · 2021Review
- Outcomes of Kidney Transplantation in Fabry Disease: A Meta-Analysis.Diseases (Basel, Switzerland) · 2020Article
- Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.International journal of molecular sciences · 2020Article
- Use of a rare disease registry for establishing phenotypic classification of previously unassignedJournal of medical genetics · 2020Article
- Functional evaluation of a novel GLA causative mutation in Fabry disease.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundFabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A (alpha-Gal A) gene located at Xq22.1. To determine the nature and frequency of the molecular lesions causing the classical and milder variant Fabry phenotypes and for precise carrier detection, the alpha-Gal A lesions in 42 unrelated Fabry hemizygotes were determined. MATERIALS AND
methodsGenomic DNA was isolated from affected probands and their family members. The seven alpha-galactosidase A exons and flanking intronic sequences were PCR amplified and the nucleotide sequence was determined by solid-phase direct sequencing.
resultsTwo patients with the mild cardiac phenotype had missense mutations, I9IT and F113L, respectively. In 38 classically affected patients, 33 new mutations were identified including 20 missense (MIT, A31V, H46R, Y86C, L89P, D92Y, C94Y, A97V, R100T, Y134S, G138R, A143T, S148R, G163V, D170V, C202Y, Y216D, N263S, W287C, and N298S), two nonsense (Q386X, W399X), one splice site mutation (IVS4 + 2T-->C), and eight small exonic insertions or deletions (304del1, 613del9, 777del1, 1057del2, 1074del2, 1077del1, 1212del3, and 1094ins1), which identified exon 7 as a region prone to gene rearrangements. In addition, two unique complex rearrangements consisting of contiguous small insertions and deletions were found in exons 1 and 2 causing L45R/H46S and L120X, respectively.
conclusionsThese studies further define the heterogeneity of mutations causing Fabry disease, permit precise carrier identification and prenatal diagnosis in these families, and facilitate the identification of candidates for enzyme replacement therapy.
Indexed as
Identifiers
9100224PMC2230047W2103941204What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.