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“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

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Zeitschriftentitel: Molecular Genetics & Genomic Medicine
Personen und Körperschaften: Jahic, Amir, Günther, Sven, Muschol, Nicole, Fossøy Stadheim, Barbro, Braaten, Øivind, Kjensli Hyldebrandt, Hanne, Kuiper, Gé‐Ann, Tylee, Karen, Wijburg, Frits A., Beetz, Christian
In: Molecular Genetics & Genomic Medicine, 7, 2019, 9
Format: E-Article
Sprache: Englisch
veröffentlicht:
Wiley
Schlagwörter:
Genetics (clinical)
Genetics
Molecular Biology
author_facet Jahic, Amir
Günther, Sven
Muschol, Nicole
Fossøy Stadheim, Barbro
Braaten, Øivind
Kjensli Hyldebrandt, Hanne
Kuiper, Gé‐Ann
Tylee, Karen
Wijburg, Frits A.
Beetz, Christian
Jahic, Amir
Günther, Sven
Muschol, Nicole
Fossøy Stadheim, Barbro
Braaten, Øivind
Kjensli Hyldebrandt, Hanne
Kuiper, Gé‐Ann
Tylee, Karen
Wijburg, Frits A.
Beetz, Christian
author Jahic, Amir
Günther, Sven
Muschol, Nicole
Fossøy Stadheim, Barbro
Braaten, Øivind
Kjensli Hyldebrandt, Hanne
Kuiper, Gé‐Ann
Tylee, Karen
Wijburg, Frits A.
Beetz, Christian
spellingShingle Jahic, Amir
Günther, Sven
Muschol, Nicole
Fossøy Stadheim, Barbro
Braaten, Øivind
Kjensli Hyldebrandt, Hanne
Kuiper, Gé‐Ann
Tylee, Karen
Wijburg, Frits A.
Beetz, Christian
Molecular Genetics & Genomic Medicine
“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
Genetics (clinical)
Genetics
Molecular Biology
author_sort jahic, amir
spelling Jahic, Amir Günther, Sven Muschol, Nicole Fossøy Stadheim, Barbro Braaten, Øivind Kjensli Hyldebrandt, Hanne Kuiper, Gé‐Ann Tylee, Karen Wijburg, Frits A. Beetz, Christian 2324-9269 2324-9269 Wiley Genetics (clinical) Genetics Molecular Biology http://dx.doi.org/10.1002/mgg3.615 <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Mucopolysaccharidosis type I (<jats:styled-content style="fixed-case">MPS</jats:styled-content> I) is a rare, recessively inherited lysosomal storage disorder, characterized by progressive multi‐systemic disease. It is caused by a reduced or absent alpha‐l iduronidase (<jats:styled-content style="fixed-case">IDUA</jats:styled-content>) enzyme activity secondary to biallelic loss‐of‐function variants in the <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic>. Over 200 causative variants in <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> have been identified. Nevertheless, there is a fraction of <jats:styled-content style="fixed-case">MPS</jats:styled-content> I patients with only a single mutated <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> allele detectable.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>As genetic testing of <jats:styled-content style="fixed-case">MPS</jats:styled-content> I is usually based on sequencing methods, copy number variations (<jats:styled-content style="fixed-case">CNV</jats:styled-content>s) in <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> can be missed and therefore presumably remain underdiagnosed. The aim of this study was the detection of <jats:styled-content style="fixed-case">CNV</jats:styled-content>s using an <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic>‐specific <jats:italic>in house</jats:italic> multiplex ligation‐dependent probe amplification (<jats:styled-content style="fixed-case">MLPA</jats:styled-content>) assay.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>A total of five unrelated <jats:styled-content style="fixed-case">MPS</jats:styled-content> I patient samples were re‐analyzed after only a single heterozygous <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> mutation c.979G&gt;C (p.A327P), c.1469T&gt;C (p.L490P), c.1598C&gt;G (p.P533R), c.1205G&gt;A (p.W402X), c.973‐7C&gt;G (p.?) could be identified. We detected a novel splice site variant c.973‐7C&gt;G (p.?), as well as two novel <jats:styled-content style="fixed-case">CNV</jats:styled-content>s, a large deletion of <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> exon 14 and 3’<jats:styled-content style="fixed-case">UTR</jats:styled-content> c.(1828 + 1_1829‐1)_(*1963_?)del, and a large duplication extending from <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> exon 2 to intron 12 c.(157 + 1_158‐1)_(1727 + 1_1728‐1)dup.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Together with the <jats:styled-content style="fixed-case">CNV</jats:styled-content>s we previously identified, a total of four pathogenic <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> <jats:styled-content style="fixed-case">CNV</jats:styled-content>s have now been reported.</jats:p></jats:sec> “Missing mutations” in <scp>MPS</scp> I: Identification of two novel copy number variations by an <i><scp>IDUA</scp></i>‐specific <i>in house </i><scp>MLPA</scp> assay Molecular Genetics & Genomic Medicine
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title “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
title_unstemmed “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
title_full “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
title_fullStr “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
title_full_unstemmed “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
title_short “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
title_sort “missing mutations” in <scp>mps</scp> i: identification of two novel copy number variations by an <i><scp>idua</scp></i>‐specific <i>in house </i><scp>mlpa</scp> assay
topic Genetics (clinical)
Genetics
Molecular Biology
url http://dx.doi.org/10.1002/mgg3.615
publishDate 2019
physical
description <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Mucopolysaccharidosis type I (<jats:styled-content style="fixed-case">MPS</jats:styled-content> I) is a rare, recessively inherited lysosomal storage disorder, characterized by progressive multi‐systemic disease. It is caused by a reduced or absent alpha‐l iduronidase (<jats:styled-content style="fixed-case">IDUA</jats:styled-content>) enzyme activity secondary to biallelic loss‐of‐function variants in the <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic>. Over 200 causative variants in <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> have been identified. Nevertheless, there is a fraction of <jats:styled-content style="fixed-case">MPS</jats:styled-content> I patients with only a single mutated <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> allele detectable.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>As genetic testing of <jats:styled-content style="fixed-case">MPS</jats:styled-content> I is usually based on sequencing methods, copy number variations (<jats:styled-content style="fixed-case">CNV</jats:styled-content>s) in <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> can be missed and therefore presumably remain underdiagnosed. The aim of this study was the detection of <jats:styled-content style="fixed-case">CNV</jats:styled-content>s using an <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic>‐specific <jats:italic>in house</jats:italic> multiplex ligation‐dependent probe amplification (<jats:styled-content style="fixed-case">MLPA</jats:styled-content>) assay.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>A total of five unrelated <jats:styled-content style="fixed-case">MPS</jats:styled-content> I patient samples were re‐analyzed after only a single heterozygous <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> mutation c.979G&gt;C (p.A327P), c.1469T&gt;C (p.L490P), c.1598C&gt;G (p.P533R), c.1205G&gt;A (p.W402X), c.973‐7C&gt;G (p.?) could be identified. We detected a novel splice site variant c.973‐7C&gt;G (p.?), as well as two novel <jats:styled-content style="fixed-case">CNV</jats:styled-content>s, a large deletion of <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> exon 14 and 3’<jats:styled-content style="fixed-case">UTR</jats:styled-content> c.(1828 + 1_1829‐1)_(*1963_?)del, and a large duplication extending from <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> exon 2 to intron 12 c.(157 + 1_158‐1)_(1727 + 1_1728‐1)dup.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Together with the <jats:styled-content style="fixed-case">CNV</jats:styled-content>s we previously identified, a total of four pathogenic <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> <jats:styled-content style="fixed-case">CNV</jats:styled-content>s have now been reported.</jats:p></jats:sec>
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author Jahic, Amir, Günther, Sven, Muschol, Nicole, Fossøy Stadheim, Barbro, Braaten, Øivind, Kjensli Hyldebrandt, Hanne, Kuiper, Gé‐Ann, Tylee, Karen, Wijburg, Frits A., Beetz, Christian
author_facet Jahic, Amir, Günther, Sven, Muschol, Nicole, Fossøy Stadheim, Barbro, Braaten, Øivind, Kjensli Hyldebrandt, Hanne, Kuiper, Gé‐Ann, Tylee, Karen, Wijburg, Frits A., Beetz, Christian, Jahic, Amir, Günther, Sven, Muschol, Nicole, Fossøy Stadheim, Barbro, Braaten, Øivind, Kjensli Hyldebrandt, Hanne, Kuiper, Gé‐Ann, Tylee, Karen, Wijburg, Frits A., Beetz, Christian
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description <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Mucopolysaccharidosis type I (<jats:styled-content style="fixed-case">MPS</jats:styled-content> I) is a rare, recessively inherited lysosomal storage disorder, characterized by progressive multi‐systemic disease. It is caused by a reduced or absent alpha‐l iduronidase (<jats:styled-content style="fixed-case">IDUA</jats:styled-content>) enzyme activity secondary to biallelic loss‐of‐function variants in the <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic>. Over 200 causative variants in <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> have been identified. Nevertheless, there is a fraction of <jats:styled-content style="fixed-case">MPS</jats:styled-content> I patients with only a single mutated <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> allele detectable.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>As genetic testing of <jats:styled-content style="fixed-case">MPS</jats:styled-content> I is usually based on sequencing methods, copy number variations (<jats:styled-content style="fixed-case">CNV</jats:styled-content>s) in <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> can be missed and therefore presumably remain underdiagnosed. The aim of this study was the detection of <jats:styled-content style="fixed-case">CNV</jats:styled-content>s using an <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic>‐specific <jats:italic>in house</jats:italic> multiplex ligation‐dependent probe amplification (<jats:styled-content style="fixed-case">MLPA</jats:styled-content>) assay.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>A total of five unrelated <jats:styled-content style="fixed-case">MPS</jats:styled-content> I patient samples were re‐analyzed after only a single heterozygous <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> mutation c.979G&gt;C (p.A327P), c.1469T&gt;C (p.L490P), c.1598C&gt;G (p.P533R), c.1205G&gt;A (p.W402X), c.973‐7C&gt;G (p.?) could be identified. We detected a novel splice site variant c.973‐7C&gt;G (p.?), as well as two novel <jats:styled-content style="fixed-case">CNV</jats:styled-content>s, a large deletion of <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> exon 14 and 3’<jats:styled-content style="fixed-case">UTR</jats:styled-content> c.(1828 + 1_1829‐1)_(*1963_?)del, and a large duplication extending from <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> exon 2 to intron 12 c.(157 + 1_158‐1)_(1727 + 1_1728‐1)dup.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Together with the <jats:styled-content style="fixed-case">CNV</jats:styled-content>s we previously identified, a total of four pathogenic <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> <jats:styled-content style="fixed-case">CNV</jats:styled-content>s have now been reported.</jats:p></jats:sec>
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spelling Jahic, Amir Günther, Sven Muschol, Nicole Fossøy Stadheim, Barbro Braaten, Øivind Kjensli Hyldebrandt, Hanne Kuiper, Gé‐Ann Tylee, Karen Wijburg, Frits A. Beetz, Christian 2324-9269 2324-9269 Wiley Genetics (clinical) Genetics Molecular Biology http://dx.doi.org/10.1002/mgg3.615 <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Mucopolysaccharidosis type I (<jats:styled-content style="fixed-case">MPS</jats:styled-content> I) is a rare, recessively inherited lysosomal storage disorder, characterized by progressive multi‐systemic disease. It is caused by a reduced or absent alpha‐l iduronidase (<jats:styled-content style="fixed-case">IDUA</jats:styled-content>) enzyme activity secondary to biallelic loss‐of‐function variants in the <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic>. Over 200 causative variants in <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> have been identified. Nevertheless, there is a fraction of <jats:styled-content style="fixed-case">MPS</jats:styled-content> I patients with only a single mutated <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> allele detectable.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>As genetic testing of <jats:styled-content style="fixed-case">MPS</jats:styled-content> I is usually based on sequencing methods, copy number variations (<jats:styled-content style="fixed-case">CNV</jats:styled-content>s) in <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> can be missed and therefore presumably remain underdiagnosed. The aim of this study was the detection of <jats:styled-content style="fixed-case">CNV</jats:styled-content>s using an <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic>‐specific <jats:italic>in house</jats:italic> multiplex ligation‐dependent probe amplification (<jats:styled-content style="fixed-case">MLPA</jats:styled-content>) assay.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>A total of five unrelated <jats:styled-content style="fixed-case">MPS</jats:styled-content> I patient samples were re‐analyzed after only a single heterozygous <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> mutation c.979G&gt;C (p.A327P), c.1469T&gt;C (p.L490P), c.1598C&gt;G (p.P533R), c.1205G&gt;A (p.W402X), c.973‐7C&gt;G (p.?) could be identified. We detected a novel splice site variant c.973‐7C&gt;G (p.?), as well as two novel <jats:styled-content style="fixed-case">CNV</jats:styled-content>s, a large deletion of <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> exon 14 and 3’<jats:styled-content style="fixed-case">UTR</jats:styled-content> c.(1828 + 1_1829‐1)_(*1963_?)del, and a large duplication extending from <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> exon 2 to intron 12 c.(157 + 1_158‐1)_(1727 + 1_1728‐1)dup.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Together with the <jats:styled-content style="fixed-case">CNV</jats:styled-content>s we previously identified, a total of four pathogenic <jats:italic><jats:styled-content style="fixed-case">IDUA</jats:styled-content></jats:italic> <jats:styled-content style="fixed-case">CNV</jats:styled-content>s have now been reported.</jats:p></jats:sec> “Missing mutations” in <scp>MPS</scp> I: Identification of two novel copy number variations by an <i><scp>IDUA</scp></i>‐specific <i>in house </i><scp>MLPA</scp> assay Molecular Genetics & Genomic Medicine
spellingShingle Jahic, Amir, Günther, Sven, Muschol, Nicole, Fossøy Stadheim, Barbro, Braaten, Øivind, Kjensli Hyldebrandt, Hanne, Kuiper, Gé‐Ann, Tylee, Karen, Wijburg, Frits A., Beetz, Christian, Molecular Genetics & Genomic Medicine, “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay, Genetics (clinical), Genetics, Molecular Biology
title “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
title_full “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
title_fullStr “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
title_full_unstemmed “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
title_short “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
title_sort “missing mutations” in <scp>mps</scp> i: identification of two novel copy number variations by an <i><scp>idua</scp></i>‐specific <i>in house </i><scp>mlpa</scp> assay
title_unstemmed “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
topic Genetics (clinical), Genetics, Molecular Biology
url http://dx.doi.org/10.1002/mgg3.615