NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series
The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with th...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Gurrieri, Fiorella [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2015transfer abstract |
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| Schlagwörter: |
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| Umfang: |
4 |
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| Übergeordnetes Werk: |
Enthalten in: Edge minimization in de Bruijn graphs - Baier, Uwe ELSEVIER, 2021, New York, NY [u.a.] |
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| Übergeordnetes Werk: |
volume:58 ; year:2015 ; number:9 ; pages:488-491 ; extent:4 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.ejmg.2015.06.009 |
|---|
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| 520 | |a The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. | ||
| 520 | |a The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. | ||
| 650 | 7 | |a Overgrowth syndrome |2 Elsevier | |
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| 700 | 1 | |a Cavaliere, Maria Luigia |4 oth | |
| 700 | 1 | |a Wischmeijer, Anita |4 oth | |
| 700 | 1 | |a Mammì, Corrado |4 oth | |
| 700 | 1 | |a Neri, Giovanni |4 oth | |
| 700 | 1 | |a Pisanti, Maria Antonietta |4 oth | |
| 700 | 1 | |a Rodella, Giulia |4 oth | |
| 700 | 1 | |a Laganà, Carmelo |4 oth | |
| 700 | 1 | |a Priolo, Manuela |4 oth | |
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10.1016/j.ejmg.2015.06.009 doi GBVA2015009000012.pica (DE-627)ELV018491200 (ELSEVIER)S1769-7212(15)00117-2 DE-627 ger DE-627 rakwb eng 570 570 DE-600 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Gurrieri, Fiorella verfasserin aut NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. Overgrowth syndrome Elsevier NFIX Elsevier MH1 domain Elsevier DNA-Binding/dimerization domain Elsevier Cavaliere, Maria Luigia oth Wischmeijer, Anita oth Mammì, Corrado oth Neri, Giovanni oth Pisanti, Maria Antonietta oth Rodella, Giulia oth Laganà, Carmelo oth Priolo, Manuela oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:58 year:2015 number:9 pages:488-491 extent:4 https://doi.org/10.1016/j.ejmg.2015.06.009 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 58 2015 9 488-491 4 045F 570 |
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10.1016/j.ejmg.2015.06.009 doi GBVA2015009000012.pica (DE-627)ELV018491200 (ELSEVIER)S1769-7212(15)00117-2 DE-627 ger DE-627 rakwb eng 570 570 DE-600 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Gurrieri, Fiorella verfasserin aut NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. Overgrowth syndrome Elsevier NFIX Elsevier MH1 domain Elsevier DNA-Binding/dimerization domain Elsevier Cavaliere, Maria Luigia oth Wischmeijer, Anita oth Mammì, Corrado oth Neri, Giovanni oth Pisanti, Maria Antonietta oth Rodella, Giulia oth Laganà, Carmelo oth Priolo, Manuela oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:58 year:2015 number:9 pages:488-491 extent:4 https://doi.org/10.1016/j.ejmg.2015.06.009 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 58 2015 9 488-491 4 045F 570 |
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10.1016/j.ejmg.2015.06.009 doi GBVA2015009000012.pica (DE-627)ELV018491200 (ELSEVIER)S1769-7212(15)00117-2 DE-627 ger DE-627 rakwb eng 570 570 DE-600 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Gurrieri, Fiorella verfasserin aut NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. Overgrowth syndrome Elsevier NFIX Elsevier MH1 domain Elsevier DNA-Binding/dimerization domain Elsevier Cavaliere, Maria Luigia oth Wischmeijer, Anita oth Mammì, Corrado oth Neri, Giovanni oth Pisanti, Maria Antonietta oth Rodella, Giulia oth Laganà, Carmelo oth Priolo, Manuela oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:58 year:2015 number:9 pages:488-491 extent:4 https://doi.org/10.1016/j.ejmg.2015.06.009 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 58 2015 9 488-491 4 045F 570 |
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10.1016/j.ejmg.2015.06.009 doi GBVA2015009000012.pica (DE-627)ELV018491200 (ELSEVIER)S1769-7212(15)00117-2 DE-627 ger DE-627 rakwb eng 570 570 DE-600 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Gurrieri, Fiorella verfasserin aut NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. Overgrowth syndrome Elsevier NFIX Elsevier MH1 domain Elsevier DNA-Binding/dimerization domain Elsevier Cavaliere, Maria Luigia oth Wischmeijer, Anita oth Mammì, Corrado oth Neri, Giovanni oth Pisanti, Maria Antonietta oth Rodella, Giulia oth Laganà, Carmelo oth Priolo, Manuela oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:58 year:2015 number:9 pages:488-491 extent:4 https://doi.org/10.1016/j.ejmg.2015.06.009 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 58 2015 9 488-491 4 045F 570 |
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10.1016/j.ejmg.2015.06.009 doi GBVA2015009000012.pica (DE-627)ELV018491200 (ELSEVIER)S1769-7212(15)00117-2 DE-627 ger DE-627 rakwb eng 570 570 DE-600 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Gurrieri, Fiorella verfasserin aut NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. Overgrowth syndrome Elsevier NFIX Elsevier MH1 domain Elsevier DNA-Binding/dimerization domain Elsevier Cavaliere, Maria Luigia oth Wischmeijer, Anita oth Mammì, Corrado oth Neri, Giovanni oth Pisanti, Maria Antonietta oth Rodella, Giulia oth Laganà, Carmelo oth Priolo, Manuela oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:58 year:2015 number:9 pages:488-491 extent:4 https://doi.org/10.1016/j.ejmg.2015.06.009 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 58 2015 9 488-491 4 045F 570 |
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Enthalten in Edge minimization in de Bruijn graphs New York, NY [u.a.] volume:58 year:2015 number:9 pages:488-491 extent:4 |
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NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series |
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The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. |
| abstractGer |
The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. |
| abstract_unstemmed |
The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. |
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NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series |
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