LymphedemaV1, Main, Exploration, bibRecord, 001D06

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

Identifieur interne : 001D06 ( Main/Exploration ); précédent : 001D05; suivant : 001D07

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

Auteurs : Craig F. Munns [Australie] ; Somayyeh Fahiminiya [Canada] ; Nabin Poudel [États-Unis] ; Maria Cristina Munteanu [États-Unis] ; Jacek Majewski [Canada] ; David O. Sillence [Australie] ; Jordan P. Metcalf [États-Unis] ; Andrew Biggin [Australie] ; Francis Glorieux [Canada] ; François Fassier [Canada] ; Frank Rauch [Canada] ; Myron E. Hinsdale [États-Unis]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2015.

RBID : PMC:4457947

Abstract

Heparan and chondroitin/dermatan sulfated proteoglycans have a wide range of roles in cellular and tissue homeostasis including growth factor function, morphogen gradient formation, and co-receptor activity. Proteoglycan assembly initiates with a xylose monosaccharide covalently attached by either xylosyltransferase I or II. Three individuals from two families were found that exhibited similar phenotypes. The index case subjects were two brothers, individuals 1 and 2, who presented with osteoporosis, cataracts, sensorineural hearing loss, and mild learning defects. Whole exome sequence analyses showed that both individuals had a homozygous c.692dup mutation (GenBank: NM_022167.3) in the xylosyltransferase II locus (XYLT2) (MIM: 608125), causing reduced XYLT2 mRNA and low circulating xylosyltransferase (XylT) activity. In an unrelated boy (individual 3) from the second family, we noted low serum XylT activity. Sanger sequencing of XYLT2 in this individual revealed a c.520del mutation in exon 2 that resulted in a frameshift and premature stop codon (p.Ala174Profs^∗35). Fibroblasts from individuals 1 and 2 showed a range of defects including reduced XylT activity, GAG incorporation of ³⁵SO₄, and heparan sulfate proteoglycan assembly. These studies demonstrate that human XylT2 deficiency results in vertebral compression fractures, sensorineural hearing loss, eye defects, and heart defects, a phenotype that is similar to the autosomal-recessive disorder spondylo-ocular syndrome of unknown cause. This phenotype is different from what has been reported in individuals with other linker enzyme deficiencies. These studies illustrate that the cells of the lens, retina, heart muscle, inner ear, and bone are dependent on XylT2 for proteoglycan assembly in humans.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457947

DOI: 10.1016/j.ajhg.2015.04.017
PubMed: 26027496
PubMed Central: 4457947

Affiliations:

Australie, Canada, États-Unis

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Homozygosity for Frameshift Mutations in <italic>XYLT2</italic>
 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects</title>
<author><name sortKey="Munns, Craig F" sort="Munns, Craig F" uniqKey="Munns C" first="Craig F." last="Munns">Craig F. Munns</name>
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<author><name sortKey="Fahiminiya, Somayyeh" sort="Fahiminiya, Somayyeh" uniqKey="Fahiminiya S" first="Somayyeh" last="Fahiminiya">Somayyeh Fahiminiya</name>
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<author><name sortKey="Munteanu, Maria Cristina" sort="Munteanu, Maria Cristina" uniqKey="Munteanu M" first="Maria Cristina" last="Munteanu">Maria Cristina Munteanu</name>
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<author><name sortKey="Metcalf, Jordan P" sort="Metcalf, Jordan P" uniqKey="Metcalf J" first="Jordan P." last="Metcalf">Jordan P. Metcalf</name>
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<author><name sortKey="Biggin, Andrew" sort="Biggin, Andrew" uniqKey="Biggin A" first="Andrew" last="Biggin">Andrew Biggin</name>
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<author><name sortKey="Glorieux, Francis" sort="Glorieux, Francis" uniqKey="Glorieux F" first="Francis" last="Glorieux">Francis Glorieux</name>
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<author><name sortKey="Fassier, Francois" sort="Fassier, Francois" uniqKey="Fassier F" first="François" last="Fassier">François Fassier</name>
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<author><name sortKey="Rauch, Frank" sort="Rauch, Frank" uniqKey="Rauch F" first="Frank" last="Rauch">Frank Rauch</name>
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<front><div type="abstract" xml:lang="en"><p>Heparan and chondroitin/dermatan sulfated proteoglycans have a wide range of roles in cellular and tissue homeostasis including growth factor function, morphogen gradient formation, and co-receptor activity. Proteoglycan assembly initiates with a xylose monosaccharide covalently attached by either xylosyltransferase I or II. Three individuals from two families were found that exhibited similar phenotypes. The index case subjects were two brothers, individuals 1 and 2, who presented with osteoporosis, cataracts, sensorineural hearing loss, and mild learning defects. Whole exome sequence analyses showed that both individuals had a homozygous c.692dup mutation (GenBank: <ext-link ext-link-type="uri" xlink:href="ncbi-n:NM_022167.3" id="intref0010">NM_022167.3</ext-link>
) in the xylosyltransferase II locus (<italic>XYLT2</italic>
) (MIM: <ext-link ext-link-type="omim" xlink:href="608125" id="intref0015">608125</ext-link>
), causing reduced <italic>XYLT2</italic>
 mRNA and low circulating xylosyltransferase (XylT) activity. In an unrelated boy (individual 3) from the second family, we noted low serum XylT activity. Sanger sequencing of <italic>XYLT2</italic>
 in this individual revealed a c.520del mutation in exon 2 that resulted in a frameshift and premature stop codon (p.Ala174Profs<sup>∗</sup>
35). Fibroblasts from individuals 1 and 2 showed a range of defects including reduced XylT activity, GAG incorporation of <sup>35</sup>
SO<sub>4</sub>
, and heparan sulfate proteoglycan assembly. These studies demonstrate that human XylT2 deficiency results in vertebral compression fractures, sensorineural hearing loss, eye defects, and heart defects, a phenotype that is similar to the autosomal-recessive disorder spondylo-ocular syndrome of unknown cause. This phenotype is different from what has been reported in individuals with other linker enzyme deficiencies. These studies illustrate that the cells of the lens, retina, heart muscle, inner ear, and bone are dependent on XylT2 for proteoglycan assembly in humans.</p>
</div>
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<name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name>
<name sortKey="Rauch, Frank" sort="Rauch, Frank" uniqKey="Rauch F" first="Frank" last="Rauch">Frank Rauch</name>
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<country name="États-Unis"><noRegion><name sortKey="Poudel, Nabin" sort="Poudel, Nabin" uniqKey="Poudel N" first="Nabin" last="Poudel">Nabin Poudel</name>
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<name sortKey="Metcalf, Jordan P" sort="Metcalf, Jordan P" uniqKey="Metcalf J" first="Jordan P." last="Metcalf">Jordan P. Metcalf</name>
<name sortKey="Munteanu, Maria Cristina" sort="Munteanu, Maria Cristina" uniqKey="Munteanu M" first="Maria Cristina" last="Munteanu">Maria Cristina Munteanu</name>
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Serveur d'exploration sur le lymphœdème

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

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	Serveur d'exploration sur le lymphœdème
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