Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata
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 cerebrovascula...
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Published in | Case reports in genetics Vol. 2016; no. 2016; pp. 1 - 6 |
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Main Authors | , , , , , , , , , , |
Format | Journal Article |
Language | English |
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Cairo, Egypt
Hindawi Publishing Corporation
01.01.2016
John Wiley & Sons, Inc Hindawi Limited |
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Abstract | 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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AbstractList | 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. Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolytic enzyme [alpha]-galactosidase A ([alpha]-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 agalactosidase 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. 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. |
Audience | Academic |
Author | Sismani, Carolina Alexandrou, Angelos Drousiotou, Anthi Mavrikiou, Gavriella Tanteles, George A. Georgiou, Theodoros Anastasiadou, Violetta Savva, Isavella Krasia, Maria Spanou-Aristidou, Elena Christodoulides, Theodoros |
AuthorAffiliation | 6 Ophthalmology Centre, 2223 Nicosia, Cyprus 3 Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus 1 Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus 4 Molecular Medicine Research Center, University of Cyprus, 1678 Nicosia, Cyprus 5 Cardio Health Center, 2042 Nicosia, Cyprus 2 Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus |
AuthorAffiliation_xml | – name: 6 Ophthalmology Centre, 2223 Nicosia, Cyprus – name: 2 Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus – name: 1 Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus – name: 3 Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus – name: 5 Cardio Health Center, 2042 Nicosia, Cyprus – name: 4 Molecular Medicine Research Center, University of Cyprus, 1678 Nicosia, Cyprus |
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Cites_doi | 10.1007/s004399900075 10.1016/j.jjcc.2010.12.004 10.1136/jmg.33.8.682 10.1093/nar/17.8.3301 10.1136/jmedgenet-2014-102797 10.1080/08035320600618809 10.1001/jama.281.3.249 10.1186/1750-1172-5-30 10.1016/j.ymgme.2011.03.022 10.1016/j.ymgme.2008.03.017 10.1002/humu.21074 10.1136/jmg.40.8.e103 10.1007/s00109-005-0656-2 10.1136/jmg.38.11.769 10.1016/j.gene.2012.06.013 10.1097/opx.0b013e31827ec7eb 10.1086/504601 |
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Copyright | Copyright © 2016 Theodoros Georgiou et al. COPYRIGHT 2016 John Wiley & Sons, Inc. Copyright © 2016 Theodoros Georgiou et al. 2016 |
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References_xml | – volume: 40, article e103 year: 2003 ident: 13 article-title: Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers publication-title: – volume: 22 start-page: 258 issue: 3 year: 2003 ident: 18 article-title: Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female publication-title: – volume: 105 start-page: 151 issue: 1-2 year: 1999 end-page: 156 ident: 2 article-title: The frequency of lysosomal storage diseases in The Netherlands publication-title: – volume: 57 start-page: 345 issue: 3 year: 2011 end-page: 353 ident: 17 article-title: Identification of novel mutations in the -galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low -galactosidase A activity publication-title: – volume: 17 start-page: 3301 issue: 8 year: 1989 ident: 9 article-title: Nucleotide sequence of the human -galactosidase A gene publication-title: – volume: 90 start-page: e63 issue: 2 year: 2013 end-page: e78 ident: 7 article-title: Fabry disease: a review of ophthalmic and systemic manifestations publication-title: – volume: 95 start-page: 30 year: 2006 end-page: 38 ident: 20 article-title: Disease manifestations and X inactivation in heterozygous females with Fabry disease publication-title: – volume: 103 start-page: 207 issue: 3 year: 2011 end-page: 214 ident: 10 article-title: Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS—the Fabry Outcome Survey publication-title: – volume: 281 start-page: 249 issue: 3 year: 1999 end-page: 254 ident: 1 article-title: Prevalence of lysosomal storage disorders publication-title: – volume: 505 start-page: 266 issue: 2 year: 2012 end-page: 268 ident: 21 article-title: X-inactivation in Fabry disease publication-title: – volume: 33 start-page: 682 issue: 8 year: 1996 end-page: 688 ident: 19 article-title: Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the -galactosidase A gene publication-title: – volume: 30 start-page: 1397 issue: 10 year: 2009 end-page: 1405 ident: 5 article-title: Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) publication-title: – volume: 81 start-page: 157 issue: 2 year: 1973 end-page: 171 ident: 12 article-title: Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. -Galactosidase activities in plasma, serum, urine, and leukocytes publication-title: – volume: 5, article 30 year: 2010 ident: 6 article-title: Fabry disease publication-title: – volume: 38 start-page: 769 issue: 11 year: 2001 end-page: 775 ident: 8 article-title: Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females publication-title: – volume: 83 start-page: 647 issue: 8 year: 2005 end-page: 654 ident: 15 article-title: Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the -galactosidase a gene in the Czech and Slovak population publication-title: – volume: 94 start-page: 382 issue: 3 year: 2008 end-page: 385 ident: 16 article-title: Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA) publication-title: – volume: 52 start-page: 353 issue: 5 year: 2015 end-page: 358 ident: 11 article-title: Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with fabry disease publication-title: – volume: 79 start-page: 31 issue: 1 year: 2006 end-page: 40 ident: 4 article-title: High incidence of later-onset fabry disease revealed by newborn screening publication-title: – volume: 51 start-page: 1229 issue: 6 year: 1992 end-page: 1239 ident: 14 article-title: Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation publication-title: – ident: 2 doi: 10.1007/s004399900075 – start-page: 3733 volume-title: α-Galactosidase A deficiency: fabry disease year: 2007 ident: 3 – ident: 17 doi: 10.1016/j.jjcc.2010.12.004 – ident: 19 doi: 10.1136/jmg.33.8.682 – ident: 9 doi: 10.1093/nar/17.8.3301 – ident: 11 doi: 10.1136/jmedgenet-2014-102797 – volume: 51 start-page: 1229 issue: 6 year: 1992 ident: 14 publication-title: The American Journal of Human Genetics – ident: 20 doi: 10.1080/08035320600618809 – volume: 81 start-page: 157 issue: 2 year: 1973 ident: 12 publication-title: The Journal of Laboratory and Clinical Medicine – volume: 22 start-page: 258 issue: 3 year: 2003 ident: 18 publication-title: Human Mutation – ident: 1 doi: 10.1001/jama.281.3.249 – ident: 6 doi: 10.1186/1750-1172-5-30 – ident: 10 doi: 10.1016/j.ymgme.2011.03.022 – ident: 16 doi: 10.1016/j.ymgme.2008.03.017 – ident: 5 doi: 10.1002/humu.21074 – ident: 13 doi: 10.1136/jmg.40.8.e103 – ident: 15 doi: 10.1007/s00109-005-0656-2 – ident: 8 doi: 10.1136/jmg.38.11.769 – ident: 21 doi: 10.1016/j.gene.2012.06.013 – ident: 7 doi: 10.1097/opx.0b013e31827ec7eb – ident: 4 doi: 10.1086/504601 |
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Snippet | 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... 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... Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolytic enzyme [alpha]-galactosidase A ([alpha]-Gal-A). It is... |
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Title | Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata |
URI | https://search.emarefa.net/detail/BIM-1100757 https://dx.doi.org/10.1155/2016/5208312 https://www.ncbi.nlm.nih.gov/pubmed/27123349 https://search.proquest.com/docview/1785732728 https://pubmed.ncbi.nlm.nih.gov/PMC4829700 https://doaj.org/article/6102821468f64f599f6481ed575d2939 |
Volume | 2016 |
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