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The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease

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@article{487550f2a6ef4b35853b1c5a9269dcb8,
title = "The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease",
abstract = "Fabry disease is an X- linked inherited lysosomal storage disease caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A). The possible pathological significance of the D313Y variant in the GLA gene has not been verified and it may be a Fabry variant. Our aim was to elucidate whether the presence of the D313Y variant influenced the α-Gal A activity or resulted in Fabry symptoms or Fabry organ involvement. In two Danish families the presence of the D313Y variant did not result in reduced α-Gal A activity or clinical Fabry manifestations in males, and the presence in Fabry females did not significantly enhance the phenotype of a known causative mutation in the GLA gene (G271S). Our findings indicate that the D313Y variant is not causative to nor enhancing Fabry disease phenotype. The D313Y variant in the GLA gene was not disease causative in 2 Danish families. Investigating male family members were crucial in excluding the Fabry phenotype, and thus very important for proper genetic counceling of all family members, as well as overdiagnosing a devastating genetic disease.",
keywords = "Journal Article",
author = "Lis Hasholt and Martin Ballegaard and Henning Bundgaard and Michael Christiansen and Ian Law and Lund, {Allan M} and Anne Norremolle and {Krogh Rasmussen}, Ase and Kirstine Ravn and Zeynep Tumer and Flemming Wibrand and Ulla Feldt-Rasmussen",
year = "2017",
month = "12",
doi = "10.1080/00365513.2017.1390782",
language = "English",
volume = "77",
pages = "617--621",
journal = "Scandinavian Journal of Clinical and Laboratory Investigation",
issn = "0036-5513",
publisher = "Informa Healthcare",
number = "8",

}

RIS

TY - JOUR

T1 - The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease

AU - Hasholt, Lis

AU - Ballegaard, Martin

AU - Bundgaard, Henning

AU - Christiansen, Michael

AU - Law, Ian

AU - Lund, Allan M

AU - Norremolle, Anne

AU - Krogh Rasmussen, Ase

AU - Ravn, Kirstine

AU - Tumer, Zeynep

AU - Wibrand, Flemming

AU - Feldt-Rasmussen, Ulla

PY - 2017/12

Y1 - 2017/12

N2 - Fabry disease is an X- linked inherited lysosomal storage disease caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A). The possible pathological significance of the D313Y variant in the GLA gene has not been verified and it may be a Fabry variant. Our aim was to elucidate whether the presence of the D313Y variant influenced the α-Gal A activity or resulted in Fabry symptoms or Fabry organ involvement. In two Danish families the presence of the D313Y variant did not result in reduced α-Gal A activity or clinical Fabry manifestations in males, and the presence in Fabry females did not significantly enhance the phenotype of a known causative mutation in the GLA gene (G271S). Our findings indicate that the D313Y variant is not causative to nor enhancing Fabry disease phenotype. The D313Y variant in the GLA gene was not disease causative in 2 Danish families. Investigating male family members were crucial in excluding the Fabry phenotype, and thus very important for proper genetic counceling of all family members, as well as overdiagnosing a devastating genetic disease.

AB - Fabry disease is an X- linked inherited lysosomal storage disease caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A). The possible pathological significance of the D313Y variant in the GLA gene has not been verified and it may be a Fabry variant. Our aim was to elucidate whether the presence of the D313Y variant influenced the α-Gal A activity or resulted in Fabry symptoms or Fabry organ involvement. In two Danish families the presence of the D313Y variant did not result in reduced α-Gal A activity or clinical Fabry manifestations in males, and the presence in Fabry females did not significantly enhance the phenotype of a known causative mutation in the GLA gene (G271S). Our findings indicate that the D313Y variant is not causative to nor enhancing Fabry disease phenotype. The D313Y variant in the GLA gene was not disease causative in 2 Danish families. Investigating male family members were crucial in excluding the Fabry phenotype, and thus very important for proper genetic counceling of all family members, as well as overdiagnosing a devastating genetic disease.

KW - Journal Article

U2 - 10.1080/00365513.2017.1390782

DO - 10.1080/00365513.2017.1390782

M3 - Journal article

VL - 77

SP - 617

EP - 621

JO - Scandinavian Journal of Clinical and Laboratory Investigation

JF - Scandinavian Journal of Clinical and Laboratory Investigation

SN - 0036-5513

IS - 8

ER -

ID: 52175839