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Activating Mutation...
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
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- Cordeddu, Viviana (författare)
- Ist Super Sanita, Italy; University of G dAnnunzio, Italy
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- Yin, Jiani C. (författare)
- University of Toronto, Canada; University of Toronto, Canada
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- Gunnarsson, Cecilia (författare)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk patologi och klinisk genetik
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- Virtanen, Carl (författare)
- University of Toronto, Canada; University of Toronto, Canada
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- Drunat, Severine (författare)
- Hop Robert Debre, France
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- Lepri, Francesca (författare)
- Bambino Gesu Pediat Hospital, Italy
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- De Luca, Alessandro (författare)
- Casa Sollievo Sofferenza Hospital, Italy
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- Rossi, Cesare (författare)
- St Orsola Marcello Malpighi Hospital, Italy
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- Ciolfi, Andrea (författare)
- Ist Super Sanita, Italy
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- Pugh, Trevor J. (författare)
- University of Toronto, Canada; University of Toronto, Canada
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- Bruselles, Alessandro (författare)
- Ist Super Sanita, Italy
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- Priest, James R. (författare)
- Stanford University, CA 94305 USA; Stanford University, CA 94305 USA
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- Pennacchio, Len A. (författare)
- University of Calif Berkeley, CA 94720 USA; US Department Energy Joint Genome Institute, CA 94598 USA
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- Lu, Zhibin (författare)
- University of Toronto, Canada; University of Toronto, Canada
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- Danesh, Arnavaz (författare)
- University of Toronto, Canada; University of Toronto, Canada
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- Quevedo, Rene (författare)
- University of Toronto, Canada; University of Toronto, Canada
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- Hamid, Alaa (författare)
- University of Toronto, Canada; University of Toronto, Canada
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- Martinelli, Simone (författare)
- Ist Super Sanita, Italy
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- Pantaleoni, Francesca (författare)
- Ist Super Sanita, Italy
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- Gnazzo, Maria (författare)
- Bambino Gesu Pediat Hospital, Italy
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- Daniele, Paola (författare)
- Casa Sollievo Sofferenza Hospital, Italy
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- Lissewski, Christina (författare)
- Otto von Guericke University, Germany
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- Bocchinfuso, Gianfranco (författare)
- University of Roma Tor Vergata, Italy
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- Stella, Lorenzo (författare)
- University of Roma Tor Vergata, Italy
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- Odent, Sylvie (författare)
- Hop SUD, France
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- Philip, Nicole (författare)
- Hop Enfants la Timone, France
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- Faivre, Laurence (författare)
- Hop Enfants, France
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- Vlckova, Marketa (författare)
- Charles University of Prague, Czech Republic; University Hospital Motol, Czech Republic
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- Seemanova, Eva (författare)
- Charles University of Prague, Czech Republic; University Hospital Motol, Czech Republic
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- Digilio, Cristina (författare)
- Bambino Gesu Pediat Hospital, Italy
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- Zenker, Martin (författare)
- Otto von Guericke University, Germany
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- Zampino, Giuseppe (författare)
- University of Cattolica Sacro Cuore, Italy
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- Verloes, Alain (författare)
- Hop Robert Debre, France
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- Dallapiccola, Bruno (författare)
- Bambino Gesu Pediat Hospital, Italy
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- Roberts, Amy E. (författare)
- Boston Childrens Hospital, MA 02115 USA; Boston Childrens Hospital, MA 02115 USA
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- Cave, Helene (författare)
- Hop Robert Debre, France; University of Paris Diderot, France
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- Gelb, Bruce D. (författare)
- Icahn School Medical Mt Sinai, NY 10029 USA; Icahn School Medical Mt Sinai, NY 10029 USA; Icahn School Medical Mt Sinai, NY 10029 USA
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- Neel, Benjamin G. (författare)
- University of Toronto, Canada; University of Toronto, Canada; NYU, NY 10016 USA
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- Tartaglia, Marco (författare)
- Ist Super Sanita, Italy; Bambino Gesu Pediat Hospital, Italy
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(creator_code:org_t)
- 2015-08-03
- 2015
- Engelska.
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Ingår i: Human Mutation. - : WILEY-BLACKWELL. - 1059-7794 .- 1098-1004. ; 36:11, s. 1080-1087
- Relaterad länk:
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https://art.torverga...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- The RASopathies constitute a family of autosomal-dominant disorders whose major features include facial dysmorphism, cardiac defects, reduced postnatal growth, variable cognitive deficits, ectodermal and skeletal anomalies, and susceptibility to certain malignancies. Noonan syndrome (NS), the commonest RASopathy, is genetically heterogeneous and caused by functional dysregulation of signal transducers and regulatory proteins with roles in the RAS/extracellular signal-regulated kinase (ERK) signal transduction pathway. Mutations in known disease genes account for approximately 80% of affected individuals. Here, we report that missense mutations altering Son of Sevenless, Drosophila, homolog 2 (SOS2), which encodes a RAS guanine nucleotide exchange factor, occur in a small percentage of subjects with NS. Four missense mutations were identified in five unrelated sporadic cases and families transmitting NS. Disease-causing mutations affected three conserved residues located in the Dbl homology (DH) domain, of which two are directly involved in the intramolecular binding network maintaining SOS2 in its autoinhibited conformation. All mutations were found to promote enhanced signaling from RAS to ERK. Similar to NS-causing SOS1 mutations, the phenotype associated with SOS2 defects is characterized by normal development and growth, as well as marked ectodermal involvement. Unlike SOS1 mutations, however, those in SOS2 are restricted to the DH domain.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Nyckelord
- genotype-phenotype correlations; Noonan syndrome; RAS signaling; SOS2
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
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Cordeddu, Vivian ...
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Yin, Jiani C.
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Gunnarsson, Ceci ...
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Virtanen, Carl
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Drunat, Severine
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Lepri, Francesca
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visa fler...
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De Luca, Alessan ...
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Rossi, Cesare
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Ciolfi, Andrea
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Pugh, Trevor J.
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Bruselles, Aless ...
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Priest, James R.
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Pennacchio, Len ...
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Lu, Zhibin
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Danesh, Arnavaz
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Quevedo, Rene
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Hamid, Alaa
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Martinelli, Simo ...
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Pantaleoni, Fran ...
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Gnazzo, Maria
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Daniele, Paola
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Lissewski, Chris ...
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Bocchinfuso, Gia ...
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Stella, Lorenzo
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Odent, Sylvie
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Philip, Nicole
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Faivre, Laurence
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Vlckova, Marketa
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Seemanova, Eva
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Digilio, Cristin ...
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Zenker, Martin
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Zampino, Giusepp ...
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Verloes, Alain
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Dallapiccola, Br ...
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Roberts, Amy E.
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Cave, Helene
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Gelb, Bruce D.
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Neel, Benjamin G ...
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Tartaglia, Marco
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- MEDICIN OCH HÄLSOVETENSKAP
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Human Mutation
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