Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata
Joint Authors
Alexandrou, Angelos
Anastasiadou, Violetta
Georgiou, Theodoros
Mavrikiou, Gavriella
Spanou-Aristidou, Elena
Savva, Isavella
Christodoulides, Theodoros
Krasia, Maria
Drousiotou, Anthi
Tanteles, George A.
Sismani, Carolina
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-03-30
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Georgiou, Theodoros& Mavrikiou, Gavriella& Alexandrou, Angelos& Spanou-Aristidou, Elena& Savva, Isavella& Christodoulides, Theodoros…[et al.]. 2016. Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata. Case Reports in Genetics،Vol. 2016, no. 2016, pp.1-6.
https://search.emarefa.net/detail/BIM-1100757
Modern Language Association (MLA)
Georgiou, Theodoros…[et al.]. Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata. Case Reports in Genetics No. 2016 (2016), pp.1-6.
https://search.emarefa.net/detail/BIM-1100757
American Medical Association (AMA)
Georgiou, Theodoros& Mavrikiou, Gavriella& Alexandrou, Angelos& Spanou-Aristidou, Elena& Savva, Isavella& Christodoulides, Theodoros…[et al.]. Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata. Case Reports in Genetics. 2016. Vol. 2016, no. 2016, pp.1-6.
https://search.emarefa.net/detail/BIM-1100757
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1100757