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Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.
Georgiou, Theodoros; Mavrikiou, Gavriella; Alexandrou, Angelos; Spanou-Aristidou, Elena; Savva, Isavella; Christodoulides, Theodoros; Krasia, Maria; Christophidou-Anastasiadou, Violetta; Sismani, Carolina; Drousiotou, Anthi; Tanteles, George A.
Afiliación
  • Georgiou T; Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
  • Mavrikiou G; Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
  • Alexandrou A; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
  • Spanou-Aristidou E; Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
  • Savva I; Molecular Medicine Research Center, University of Cyprus, 1678 Nicosia, Cyprus.
  • Christodoulides T; Cardio Health Center, 2042 Nicosia, Cyprus.
  • Krasia M; Ophthalmology Centre, 2223 Nicosia, Cyprus.
  • Christophidou-Anastasiadou V; Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
  • Sismani C; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
  • Drousiotou A; Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
  • Tanteles GA; Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
Case Rep Genet ; 2016: 5208312, 2016.
Article en En | MEDLINE | ID: mdl-27123349
Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolytic enzyme α-galactosidase A (α-Gal-A). It is characterized by progressive lysosomal accumulation of globotriaosylceramide (Gb3) and multisystem pathology, affecting the skin, nervous and cerebrovascular systems, kidneys, and heart. Heterozygous females typically exhibit milder symptoms and a later age of onset than males. Rarely, they may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. We report on a 17-year-old female in whom cornea verticillata was found during a routine ophthalmological examination but with no other clinical symptoms. Leucocyte α-galactosidase activity was within the overlap range between Fabry heterozygotes and normal controls. Sanger sequencing of the GLA gene failed to reveal any pathogenic variants. Multiplex Ligation-dependent Probe Amplification (MLPA) analysis revealed a deletion of exon 7. Using a long-range PCR walking approach, we managed to identify the deletion breakpoints. The deletion spans 1182 bp, with its 5' end located within exon 6 of the GLA gene and its 3' end located 612 bp downstream of exon 7. This finding represents a novel deletion identified in the first reported Cypriot female carrier of Fabry disease.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Case Rep Genet Año: 2016 Tipo del documento: Article País de afiliación: Chipre Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Case Rep Genet Año: 2016 Tipo del documento: Article País de afiliación: Chipre Pais de publicación: Estados Unidos