LeHavreV1, Main, Exploration, bibRecord, 000952

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

Identifieur interne : 000952 ( Main/Exploration ); précédent : 000951; suivant : 000953

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

Auteurs : Valérie Malan ; Diana Rajan ; Sophie Thomas ; Adam C. Shaw ; Hélène Louis Dit Picard ; Valérie Layet ; Marianne Till ; Arie Van Haeringen ; Geert Mortier ; Sheela Nampoothiri ; Silvija Pušelji ; Laurence Legeai-Mallet ; Nigel P. Carter ; Michel Vekemans ; Arnold Munnich ; Raoul C. Hennekam ; Laurence Colleaux ; Valérie Cormier-Daire

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2010.

RBID : PMC:2917711

Abstract

By using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (NFIX) deletions or nonsense mutation in three sporadic cases of a Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, developmental delay, scoliosis, and unusual facies. Unlike the aforementioned human syndrome, Nfix-deficient mice are unable to gain weight and die in the first 3 postnatal weeks, while they also present with a spinal deformation and decreased bone mineralization. These features prompted us to consider NFIX as a candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia, and unusual facies. Distinct frameshift and splice NFIX mutations that escaped nonsense-mediated mRNA decay (NMD) were identified in nine MSS subjects. NFIX belongs to the Nuclear factor one (NFI) family of transcription factors, but its specific function is presently unknown. We demonstrate that NFIX is normally expressed prenatally during human brain development and skeletogenesis. These findings demonstrate that allelic NFIX mutations trigger distinct phenotypes, depending specifically on their impact on NMD.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917711

DOI: 10.1016/j.ajhg.2010.07.001
PubMed: 20673863
PubMed Central: 2917711

Affiliations:

Le document en format XML

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 Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome</title>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Distinct Effects of Allelic <italic>NFIX</italic>
 Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome</title>
<author><name sortKey="Malan, Valerie" sort="Malan, Valerie" uniqKey="Malan V" first="Valérie" last="Malan">Valérie Malan</name>
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<author><name sortKey="Puselji, Silvija" sort="Puselji, Silvija" uniqKey="Puselji S" first="Silvija" last="Pušelji">Silvija Pušelji</name>
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<affiliation><nlm:aff id="aff10"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Colleaux, Laurence" sort="Colleaux, Laurence" uniqKey="Colleaux L" first="Laurence" last="Colleaux">Laurence Colleaux</name>
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</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
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<series><title level="j">American Journal of Human Genetics</title>
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<front><div type="abstract" xml:lang="en"><p>By using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (<italic>NFIX</italic>
) deletions or nonsense mutation in three sporadic cases of a Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, developmental delay, scoliosis, and unusual facies. Unlike the aforementioned human syndrome, <italic>Nfix</italic>
-deficient mice are unable to gain weight and die in the first 3 postnatal weeks, while they also present with a spinal deformation and decreased bone mineralization. These features prompted us to consider <italic>NFIX</italic>
 as a candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia, and unusual facies. Distinct frameshift and splice <italic>NFIX</italic>
 mutations that escaped nonsense-mediated mRNA decay (NMD) were identified in nine MSS subjects. NFIX belongs to the Nuclear factor one (NFI) family of transcription factors, but its specific function is presently unknown. We demonstrate that <italic>NFIX</italic>
 is normally expressed prenatally during human brain development and skeletogenesis. These findings demonstrate that allelic <italic>NFIX</italic>
 mutations trigger distinct phenotypes, depending specifically on their impact on NMD.</p>
</div>
</front>
</TEI>
<affiliations><list></list>
<tree><noCountry><name sortKey="Carter, Nigel P" sort="Carter, Nigel P" uniqKey="Carter N" first="Nigel P." last="Carter">Nigel P. Carter</name>
<name sortKey="Colleaux, Laurence" sort="Colleaux, Laurence" uniqKey="Colleaux L" first="Laurence" last="Colleaux">Laurence Colleaux</name>
<name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<name sortKey="Hennekam, Raoul C" sort="Hennekam, Raoul C" uniqKey="Hennekam R" first="Raoul C." last="Hennekam">Raoul C. Hennekam</name>
<name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valérie" last="Layet">Valérie Layet</name>
<name sortKey="Legeai Mallet, Laurence" sort="Legeai Mallet, Laurence" uniqKey="Legeai Mallet L" first="Laurence" last="Legeai-Mallet">Laurence Legeai-Mallet</name>
<name sortKey="Louis Dit Picard, Helene" sort="Louis Dit Picard, Helene" uniqKey="Louis Dit Picard H" first="Hélène" last="Louis Dit Picard">Hélène Louis Dit Picard</name>
<name sortKey="Malan, Valerie" sort="Malan, Valerie" uniqKey="Malan V" first="Valérie" last="Malan">Valérie Malan</name>
<name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name>
<name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<name sortKey="Nampoothiri, Sheela" sort="Nampoothiri, Sheela" uniqKey="Nampoothiri S" first="Sheela" last="Nampoothiri">Sheela Nampoothiri</name>
<name sortKey="Puselji, Silvija" sort="Puselji, Silvija" uniqKey="Puselji S" first="Silvija" last="Pušelji">Silvija Pušelji</name>
<name sortKey="Rajan, Diana" sort="Rajan, Diana" uniqKey="Rajan D" first="Diana" last="Rajan">Diana Rajan</name>
<name sortKey="Shaw, Adam C" sort="Shaw, Adam C" uniqKey="Shaw A" first="Adam C." last="Shaw">Adam C. Shaw</name>
<name sortKey="Thomas, Sophie" sort="Thomas, Sophie" uniqKey="Thomas S" first="Sophie" last="Thomas">Sophie Thomas</name>
<name sortKey="Till, Marianne" sort="Till, Marianne" uniqKey="Till M" first="Marianne" last="Till">Marianne Till</name>
<name sortKey="Van Haeringen, Arie" sort="Van Haeringen, Arie" uniqKey="Van Haeringen A" first="Arie" last="Van Haeringen">Arie Van Haeringen</name>
<name sortKey="Vekemans, Michel" sort="Vekemans, Michel" uniqKey="Vekemans M" first="Michel" last="Vekemans">Michel Vekemans</name>
</noCountry>
</tree>
</affiliations>
</record>

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Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

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Abstract

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