Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
Identifieur interne : 000262 ( Ncbi/Curation ); précédent : 000261; suivant : 000263Distinct 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-DaireSource :
- American Journal of Human Genetics [ 0002-9297 ] ; 2010.
Abstract
By using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (
Url:
DOI: 10.1016/j.ajhg.2010.07.001
PubMed: 20673863
PubMed Central: 2917711
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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>
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<author><name sortKey="Vekemans, Michel" sort="Vekemans, Michel" uniqKey="Vekemans M" first="Michel" last="Vekemans">Michel Vekemans</name>
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<author><name sortKey="Hennekam, Raoul C" sort="Hennekam, Raoul C" uniqKey="Hennekam R" first="Raoul C." last="Hennekam">Raoul C. Hennekam</name>
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<author><name sortKey="Colleaux, Laurence" sort="Colleaux, Laurence" uniqKey="Colleaux L" first="Laurence" last="Colleaux">Laurence Colleaux</name>
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<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
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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>
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