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Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" a-galactosidase a large deletion

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Standard

Diagnostic dilemma : a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" a-galactosidase a large deletion. / Feldt-Rasmussen, Ulla; Dobrovolny, Robert; Nazarenko, Irina; Ballegaard, Martin; Hasholt, Lis; Rasmussen, Ase K; Christensen, Erik Ilsø; Sorensen, Soren S; Wibrand, Flemming; Desnick, Robert J.

I: Molecular Genetics and Metabolism, Bind 104, Nr. 3, 2011, s. 314-8.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Feldt-Rasmussen, U, Dobrovolny, R, Nazarenko, I, Ballegaard, M, Hasholt, L, Rasmussen, AK, Christensen, EI, Sorensen, SS, Wibrand, F & Desnick, RJ 2011, 'Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" a-galactosidase a large deletion', Molecular Genetics and Metabolism, bind 104, nr. 3, s. 314-8. https://doi.org/10.1016/j.ymgme.2011.05.008

APA

Feldt-Rasmussen, U., Dobrovolny, R., Nazarenko, I., Ballegaard, M., Hasholt, L., Rasmussen, A. K., ... Desnick, R. J. (2011). Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" a-galactosidase a large deletion. Molecular Genetics and Metabolism, 104(3), 314-8. https://doi.org/10.1016/j.ymgme.2011.05.008

Vancouver

Feldt-Rasmussen U, Dobrovolny R, Nazarenko I, Ballegaard M, Hasholt L, Rasmussen AK o.a. Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" a-galactosidase a large deletion. Molecular Genetics and Metabolism. 2011;104(3):314-8. https://doi.org/10.1016/j.ymgme.2011.05.008

Author

Feldt-Rasmussen, Ulla ; Dobrovolny, Robert ; Nazarenko, Irina ; Ballegaard, Martin ; Hasholt, Lis ; Rasmussen, Ase K ; Christensen, Erik Ilsø ; Sorensen, Soren S ; Wibrand, Flemming ; Desnick, Robert J. / Diagnostic dilemma : a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" a-galactosidase a large deletion. I: Molecular Genetics and Metabolism. 2011 ; Bind 104, Nr. 3. s. 314-8.

Bibtex

@article{2db825c0ba8c4db686578ea6bf3c53c5,
title = "Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a {"}sequencing cryptic{"} a-galactosidase a large deletion",
abstract = "Fabry disease, an X-linked lysosomal storage disorder, results from the deficient activity of a-galactosidase A (a-Gal A). In affected males, the clinical diagnosis is confirmed by the markedly decreased a-Gal A activity. However, in female heterozygotes, the a-Gal A activity can range from low to normal due to random X-chromosomal inactivation, and diagnostic confirmation requires identification of the family's a-Gal A gene mutation. In a young female who had occasional acroparesthesias, corneal opacities, and 15 to 50{\%} of the lower limit of normal leukocyte a-Gal A activity, a-Gal A sequencing in two expert laboratories did not identify a confirmatory mutation, presenting a diagnostic dilemma. A renal biopsy proved diagnostic and renewed efforts to detect an a-Gal A mutation. Subsequent gene dosage analyses identified a large a-Gal A deletion confirming her heterozygosity, and she was started on enzyme replacement therapy. Thus, gene dosage analyses can detect large deletions (>50bp) in suspect heterozygotes for X-linked and autosomal dominant diseases that are {"}sequencing cryptic,{"} resolving molecular diagnostic dilemmas.",
keywords = "Adolescent, Biopsy, Enzyme Replacement Therapy, Fabry Disease, Female, Gene Components, Gene Dosage, Heterozygote Detection, Humans, Kidney, Polymerase Chain Reaction, Sequence Analysis, DNA, Sequence Deletion, alpha-Galactosidase",
author = "Ulla Feldt-Rasmussen and Robert Dobrovolny and Irina Nazarenko and Martin Ballegaard and Lis Hasholt and Rasmussen, {Ase K} and Christensen, {Erik Ils{\o}} and Sorensen, {Soren S} and Flemming Wibrand and Desnick, {Robert J}",
note = "Copyright {\^A}{\circledC} 2011 Elsevier Inc. All rights reserved.",
year = "2011",
doi = "10.1016/j.ymgme.2011.05.008",
language = "English",
volume = "104",
pages = "314--8",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press",
number = "3",

}

RIS

TY - JOUR

T1 - Diagnostic dilemma

T2 - a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" a-galactosidase a large deletion

AU - Feldt-Rasmussen, Ulla

AU - Dobrovolny, Robert

AU - Nazarenko, Irina

AU - Ballegaard, Martin

AU - Hasholt, Lis

AU - Rasmussen, Ase K

AU - Christensen, Erik Ilsø

AU - Sorensen, Soren S

AU - Wibrand, Flemming

AU - Desnick, Robert J

N1 - Copyright © 2011 Elsevier Inc. All rights reserved.

PY - 2011

Y1 - 2011

N2 - Fabry disease, an X-linked lysosomal storage disorder, results from the deficient activity of a-galactosidase A (a-Gal A). In affected males, the clinical diagnosis is confirmed by the markedly decreased a-Gal A activity. However, in female heterozygotes, the a-Gal A activity can range from low to normal due to random X-chromosomal inactivation, and diagnostic confirmation requires identification of the family's a-Gal A gene mutation. In a young female who had occasional acroparesthesias, corneal opacities, and 15 to 50% of the lower limit of normal leukocyte a-Gal A activity, a-Gal A sequencing in two expert laboratories did not identify a confirmatory mutation, presenting a diagnostic dilemma. A renal biopsy proved diagnostic and renewed efforts to detect an a-Gal A mutation. Subsequent gene dosage analyses identified a large a-Gal A deletion confirming her heterozygosity, and she was started on enzyme replacement therapy. Thus, gene dosage analyses can detect large deletions (>50bp) in suspect heterozygotes for X-linked and autosomal dominant diseases that are "sequencing cryptic," resolving molecular diagnostic dilemmas.

AB - Fabry disease, an X-linked lysosomal storage disorder, results from the deficient activity of a-galactosidase A (a-Gal A). In affected males, the clinical diagnosis is confirmed by the markedly decreased a-Gal A activity. However, in female heterozygotes, the a-Gal A activity can range from low to normal due to random X-chromosomal inactivation, and diagnostic confirmation requires identification of the family's a-Gal A gene mutation. In a young female who had occasional acroparesthesias, corneal opacities, and 15 to 50% of the lower limit of normal leukocyte a-Gal A activity, a-Gal A sequencing in two expert laboratories did not identify a confirmatory mutation, presenting a diagnostic dilemma. A renal biopsy proved diagnostic and renewed efforts to detect an a-Gal A mutation. Subsequent gene dosage analyses identified a large a-Gal A deletion confirming her heterozygosity, and she was started on enzyme replacement therapy. Thus, gene dosage analyses can detect large deletions (>50bp) in suspect heterozygotes for X-linked and autosomal dominant diseases that are "sequencing cryptic," resolving molecular diagnostic dilemmas.

KW - Adolescent

KW - Biopsy

KW - Enzyme Replacement Therapy

KW - Fabry Disease

KW - Female

KW - Gene Components

KW - Gene Dosage

KW - Heterozygote Detection

KW - Humans

KW - Kidney

KW - Polymerase Chain Reaction

KW - Sequence Analysis, DNA

KW - Sequence Deletion

KW - alpha-Galactosidase

U2 - 10.1016/j.ymgme.2011.05.008

DO - 10.1016/j.ymgme.2011.05.008

M3 - Journal article

C2 - 21641253

VL - 104

SP - 314

EP - 318

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 3

ER -

ID: 38489246