LymphedemaV1, Main, Exploration, bibRecord, 002253

A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes

Identifieur interne : 002253 ( Main/Exploration ); précédent : 002252; suivant : 002254

A 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.

RBID : PMC:4654953

Descripteurs français

KwdFr :
- Dépistage génétique, Fractures multiples (génétique), Fractures multiples (imagerie diagnostique), Glucuronosyltransferase (génétique), Homozygote, Humains, Mutation (génétique), Mâle, Nourrisson, Nouveau-né, Phénotype, Radiographie, Syndrome.
MESH :
- génétique : Fractures multiples, Glucuronosyltransferase, Mutation.
- imagerie diagnostique : Fractures multiples.
- Dépistage génétique, Homozygote, Humains, Mâle, Nourrisson, Nouveau-né, Phénotype, Radiographie, Syndrome.

English descriptors

KwdEn :
- Fractures, Multiple (diagnostic imaging), Fractures, Multiple (genetics), Genetic Testing, Glucuronosyltransferase (genetics), Homozygote, Humans, Infant, Infant, Newborn, Male, Mutation (genetics), Phenotype, Radiography, Syndrome.
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 B3GAT3, adds the last of the four saccharides that comprise the linker region. Mutations in B3GAT3 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 B3GAT3 (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 B3GAT3 mutations and a comparative overview of the phenotypic features of the linkeropathies associated with mutations in XYLT1, B4GALT7, B3GALT6, and B3GAT3.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654953

DOI: 10.1002/ajmg.a.37209
PubMed: 26086840
PubMed Central: 4654953

Affiliations:

Le 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>Glucuronosyltransferase (genetics)</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>
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A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes

A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

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Pour mettre un lien sur cette page dans le réseau Wicri

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