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      https://www.ias.ac.in/article/fulltext/jgen/096/01/0161-0164

    • Keywords

       

      Fabry disease; mutation; GLA gene; Mexican.

    • Abstract

       

      Fabry disease (FD) is a lysosomal storage disorder, which develops due to a deficiency in the hydrolytic enzyme, α-galactosidase A (α-Gal A). Alpha-Gal A hydrolyzes glycosphingolipid globotriaosylceramide (Gb3), and an α-Gal Adeficiency leads to Gb3 accumulation in tissues and cells in the body. This pathology is likely to involve multiple systems, but it is generally considered to affect primarily vascular endothelium. In this study, we investigated mutations in the GLA gene, which encodes α-Gal A, in Mexican families with FD. We included seven probands with FD that carried known mutations. We analysed pedigrees of the probands, and performed molecular screening in 65 relatives with the potential of carrying a GLA mutation. Five mutations (P40S, IVS4+4, G328V, R363H, R404del) were detected in seven unrelated Mexican familieswith the classic FD phenotype. Of the 65 relatives examined, 42 (64.6%) had a GLA gene mutation. In summary, among seven Mexican probands with FD, 65 relatives were at risk of carrying a known GLA mutation, and molecular screening identified 42 individuals with the mutation. Thus, our findings showed that it is important to perform molecular analysis in families with FD to detect mutations and to provide accurate diagnoses for individuals that could be affected.

    • Author Affiliations

       

      BIANCA ETHEL GUTIÉRREZ-AMAVIZCA1 2 ANDREAS GAL3 ROCÍO ORTÍZ-OROZCO1 ULRICH ORTH4 ERNESTO PRADO MONTES DE OCA5 JAIME PAUL GUTIÉRREZ-AMAVIZCA2 LUIS E. FIGUERA1

      1. División de Genética, Centro de Investigación Biomédica de Occidente, IMSS; Doctorado en Genética Humana, Universidad de Guadalajara, Sierra Mojada 800, Col. Independencia, CP. 44340, Guadalajara, Jalisco, México
      2. Instituto de Ciencias Biomédicas, Universidad Autónoma de Ciudad Juárez, Av. Benjamín Franklin no. 4650 Zona PRONAF CP 32315, Ciudad Juárez, Chihuahua, México
      3. Institutfür Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Campus Forschung N27 Martinistr. 52 20246, Hamburg, Germany
      4. Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Campus Forschung N27 Martinistr. 52 20246, Hamburg, Germany
      5. Personalized Medicine National Laboratory (LAMPER), Biosecurity Area, Pharmaceutical and Medical Biotechnology Unit, Research Center in Technology and Design Assistance of Jalisco State (CIATEJ, AC), National Council of Science and Technology (CONACYT), CP 44270, Guadalajara, Jalisco, Mexico
    • Dates

       
  • Journal of Genetics | News

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