A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes
Identifieur interne : 003499 ( Pmc/Curation ); précédent : 003498; suivant : 003500A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes
Auteurs : Kelly L. Jones [États-Unis] ; Ulrike Schwarze [États-Unis] ; Margaret P. Adam [États-Unis] ; Peter H. Byers [États-Unis] ; Heather C. Mefford [États-Unis]Source :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2015.
Abstract
Linkeropathies are a group of syndromes characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures and dislocations, joint laxity, broad digits, brachycephaly, small mouth, prominent eyes, short or webbed neck, congenital heart defects and mild developmental delay. Linkeropathies are due to enzymatic defects in the synthesis of the common linker region that joins the core proteins to their glycosaminoglycan side chains. The enzyme glucuronyltransferase 1, encoded by
Url:
DOI: 10.1002/ajmg.a.37209
PubMed: 26086840
PubMed Central: 4654953
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Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes</title>
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<front><div type="abstract" xml:lang="en"><p id="P1">Linkeropathies are a group of syndromes characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures and dislocations, joint laxity, broad digits, brachycephaly, small mouth, prominent eyes, short or webbed neck, congenital heart defects and mild developmental delay. Linkeropathies are due to enzymatic defects in the synthesis of the common linker region that joins the core proteins to their glycosaminoglycan side chains. The enzyme glucuronyltransferase 1, encoded by <italic>B3GAT3,</italic>
adds the last of the four saccharides that comprise the linker region. Mutations in <italic>B3GAT3</italic>
have been reported in two unrelated families with the same homozygous mutation (c.830G>A, p.Arg277Gln). We report a patient with a novel homozygous <italic>B3GAT3</italic>
(c.667G>A, p.Gly223Ser) mutation and a history of multiple fractures, blue sclerae, and glaucoma. Our patient is a 12 month old boy born to consanguineous parents and, like previously reported patients, he has bilateral radio-ulnar synostosis, severe osteopenia, an increased gap between first and second toes, bilateral club feet, and atrial and ventricular septal defects. He also the additional features of bilateral glaucoma, hypertelorism, upturned nose with anteverted nares, a small chest, a diaphragmatic hernia, multiple fractures, arachnodactyly, overlapping fingers with ulnar deviation, lymphedema, hypotonia, hearing loss, and perinatal cerebral infarction with bilateral supra- and infratentorial subdural hematomas. We provide a clinical report to highlight the extended phenotypic range of <italic>B3GAT3</italic>
mutations and a comparative overview of the phenotypic features of the linkeropathies associated with mutations in <italic>XYLT1, B4GALT7, B3GALT6,</italic>
and <italic>B3GAT3</italic>
.</p>
</div>
</front>
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<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
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<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101235741</journal-id>
<journal-id journal-id-type="pubmed-jr-id">32200</journal-id>
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<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
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</article-categories>
<title-group><article-title>A Homozygous <italic>B3GAT3</italic>
Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes</article-title>
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<contrib-group><contrib contrib-type="author"><name><surname>Jones</surname>
<given-names>Kelly L.</given-names>
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<xref ref-type="aff" rid="A1">1</xref>
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<contrib contrib-type="author"><name><surname>Schwarze</surname>
<given-names>Ulrike</given-names>
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<contrib contrib-type="author"><name><surname>Adam</surname>
<given-names>Margaret P.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
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<contrib contrib-type="author"><name><surname>Byers</surname>
<given-names>Peter H.</given-names>
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<xref ref-type="aff" rid="A3">3</xref>
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<contrib contrib-type="author"><name><surname>Mefford</surname>
<given-names>Heather C.</given-names>
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<aff id="A1"><label>1</label>
Division of Genetic Medicine, Department of Pediatrics, University of Washington & Seattle Children’s Hospital, Seattle, WA</aff>
<aff id="A2"><label>2</label>
Department of Pathology, University of Washington, Seattle, Washington, USA</aff>
<aff id="A3"><label>3</label>
Department of Medicine, University of Washington, Seattle, Washington, USA</aff>
<author-notes><corresp id="FN1"><label>*</label>
CORRESPONDING AUTHOR: Heather C. Mefford, MD, PhD, Associate Professor of Pediatrics, Division of Genetic Medicine, University of Washington, RR349A/Box356320, Seattle, WA 98195, <email>hmefford@uw.edu</email>
, Phone: 206-543-9572, Fax: 206-543-3184</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>31</day>
<month>10</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="epub"><day>18</day>
<month>6</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="ppub"><month>11</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>21</day>
<month>11</month>
<year>2015</year>
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<issue>11</issue>
<fpage>2691</fpage>
<lpage>2696</lpage>
<pmc-comment>elocation-id from pubmed: 10.1002/ajmg.a.37209</pmc-comment>
<abstract><p id="P1">Linkeropathies are a group of syndromes characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures and dislocations, joint laxity, broad digits, brachycephaly, small mouth, prominent eyes, short or webbed neck, congenital heart defects and mild developmental delay. Linkeropathies are due to enzymatic defects in the synthesis of the common linker region that joins the core proteins to their glycosaminoglycan side chains. The enzyme glucuronyltransferase 1, encoded by <italic>B3GAT3,</italic>
adds the last of the four saccharides that comprise the linker region. Mutations in <italic>B3GAT3</italic>
have been reported in two unrelated families with the same homozygous mutation (c.830G>A, p.Arg277Gln). We report a patient with a novel homozygous <italic>B3GAT3</italic>
(c.667G>A, p.Gly223Ser) mutation and a history of multiple fractures, blue sclerae, and glaucoma. Our patient is a 12 month old boy born to consanguineous parents and, like previously reported patients, he has bilateral radio-ulnar synostosis, severe osteopenia, an increased gap between first and second toes, bilateral club feet, and atrial and ventricular septal defects. He also the additional features of bilateral glaucoma, hypertelorism, upturned nose with anteverted nares, a small chest, a diaphragmatic hernia, multiple fractures, arachnodactyly, overlapping fingers with ulnar deviation, lymphedema, hypotonia, hearing loss, and perinatal cerebral infarction with bilateral supra- and infratentorial subdural hematomas. We provide a clinical report to highlight the extended phenotypic range of <italic>B3GAT3</italic>
mutations and a comparative overview of the phenotypic features of the linkeropathies associated with mutations in <italic>XYLT1, B4GALT7, B3GALT6,</italic>
and <italic>B3GAT3</italic>
.</p>
</abstract>
<kwd-group><kwd>Linkeropathy</kwd>
<kwd><italic>B3GAT3</italic>
</kwd>
<kwd>Larsen-like syndrome</kwd>
<kwd>proteoglycan disorder</kwd>
<kwd>congenital disorder of glycosylation</kwd>
<kwd>multiple fractures</kwd>
</kwd-group>
</article-meta>
</front>
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</record>
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