A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes
Identifieur interne : 007503 ( Ncbi/Curation ); précédent : 007502; suivant : 007504A 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.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Fractures multiples, Glucuronosyltransferase, Mutation.
- imagerie diagnostique : Fractures multiples.
- Dépistage génétique, Homozygote, Humains, Mâle, Nourrisson, Nouveau-né, Phénotype, Radiographie, Syndrome.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Glucuronosyltransferase.
- diagnostic imaging : Fractures, Multiple.
- genetics : Fractures, Multiple, Mutation.
- Genetic Testing, Homozygote, Humans, Infant, Infant, Newborn, Male, Phenotype, Radiography, Syndrome.
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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PMC:4654953Le document en format XML
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Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes</title>
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<term>Fractures, Multiple (genetics)</term>
<term>Genetic Testing</term>
<term>Glucuronosyltransferase (genetics)</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
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<term>Fractures multiples (imagerie diagnostique)</term>
<term>Glucuronosyltransferase (génétique)</term>
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<term>Humains</term>
<term>Mutation (génétique)</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Phénotype</term>
<term>Radiographie</term>
<term>Syndrome</term>
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<keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Fractures, Multiple</term>
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<term>Mutation</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Fractures multiples</term>
<term>Glucuronosyltransferase</term>
<term>Mutation</term>
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</keywords>
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<term>Homozygote</term>
<term>Humans</term>
<term>Infant</term>
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<term>Male</term>
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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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