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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. / Zenker, Martin; Horn, Denise; Wieczorek, Dagmar; Allanson, Judith; Pauli, Silke; van der Burgt, Ineke; Doerr, Helmuth-Guenther; Gaspar, Harald; Hofbeck, Michael; Gillessen-Kaesbach, Gabriele; Koch, Andreas; Meinecke, Peter; Mundlos, Stefan; Nowka, Anja; Rauch, Anita; Reif, Silke; von Schnakenburg, Christian; Seidel, Heide; Wehner, Lars-Erik; Zweier, Christiane; Bauhuber, Susanne; Matejas, Verena; Kratz, Christian P; Thomas, Christoph; Kutsche, Kerstin.

in: J MED GENET, Jahrgang 44, Nr. 10, 10, 2007, S. 651-656.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Zenker, M, Horn, D, Wieczorek, D, Allanson, J, Pauli, S, van der Burgt, I, Doerr, H-G, Gaspar, H, Hofbeck, M, Gillessen-Kaesbach, G, Koch, A, Meinecke, P, Mundlos, S, Nowka, A, Rauch, A, Reif, S, von Schnakenburg, C, Seidel, H, Wehner, L-E, Zweier, C, Bauhuber, S, Matejas, V, Kratz, CP, Thomas, C & Kutsche, K 2007, 'SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.', J MED GENET, Jg. 44, Nr. 10, 10, S. 651-656. <http://www.ncbi.nlm.nih.gov/pubmed/17586837?dopt=Citation>

APA

Zenker, M., Horn, D., Wieczorek, D., Allanson, J., Pauli, S., van der Burgt, I., Doerr, H-G., Gaspar, H., Hofbeck, M., Gillessen-Kaesbach, G., Koch, A., Meinecke, P., Mundlos, S., Nowka, A., Rauch, A., Reif, S., von Schnakenburg, C., Seidel, H., Wehner, L-E., ... Kutsche, K. (2007). SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J MED GENET, 44(10), 651-656. [10]. http://www.ncbi.nlm.nih.gov/pubmed/17586837?dopt=Citation

Vancouver

Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I et al. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J MED GENET. 2007;44(10):651-656. 10.

Bibtex

@article{0ab150bdb4a6466e978fb050732a5989,
title = "SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.",
abstract = "BACKGROUND: Heterozygous gain-of-function mutations in various genes encoding proteins of the Ras-MAPK signalling cascade have been identified as the genetic basis of Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS). Mutations of SOS1, the gene encoding a guanine nucleotide exchange factor for Ras, have been the most recent discoveries in patients with NS, but this gene has not been studied in patients with CFCS. METHODS AND RESULTS: We investigated SOS1 in a large cohort of patients with disorders of the NS-CFCS spectrum, who had previously tested negative for mutations in PTPN11, KRAS, BRAF, MEK1 and MEK2. Missense mutations of SOS1 were discovered in 28% of patients with NS. In contrast, none of the patients classified as having CFCS was found to carry a pathogenic sequence change in this gene. CONCLUSION: We have confirmed SOS1 as the second major gene for NS. Patients carrying mutations in this gene have a distinctive phenotype with frequent ectodermal anomalies such as keratosis pilaris and curly hair. However, the clinical picture associated with SOS1 mutations is different from that of CFCS. These findings corroborate that, despite being caused by gain-of-function mutations in molecules belonging to the same pathway, NS and CFCS scarcely overlap genotypically.",
author = "Martin Zenker and Denise Horn and Dagmar Wieczorek and Judith Allanson and Silke Pauli and {van der Burgt}, Ineke and Helmuth-Guenther Doerr and Harald Gaspar and Michael Hofbeck and Gabriele Gillessen-Kaesbach and Andreas Koch and Peter Meinecke and Stefan Mundlos and Anja Nowka and Anita Rauch and Silke Reif and {von Schnakenburg}, Christian and Heide Seidel and Lars-Erik Wehner and Christiane Zweier and Susanne Bauhuber and Verena Matejas and Kratz, {Christian P} and Christoph Thomas and Kerstin Kutsche",
year = "2007",
language = "Deutsch",
volume = "44",
pages = "651--656",
journal = "J MED GENET",
issn = "0022-2593",
publisher = "BMJ PUBLISHING GROUP",
number = "10",

}

RIS

TY - JOUR

T1 - SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

AU - Zenker, Martin

AU - Horn, Denise

AU - Wieczorek, Dagmar

AU - Allanson, Judith

AU - Pauli, Silke

AU - van der Burgt, Ineke

AU - Doerr, Helmuth-Guenther

AU - Gaspar, Harald

AU - Hofbeck, Michael

AU - Gillessen-Kaesbach, Gabriele

AU - Koch, Andreas

AU - Meinecke, Peter

AU - Mundlos, Stefan

AU - Nowka, Anja

AU - Rauch, Anita

AU - Reif, Silke

AU - von Schnakenburg, Christian

AU - Seidel, Heide

AU - Wehner, Lars-Erik

AU - Zweier, Christiane

AU - Bauhuber, Susanne

AU - Matejas, Verena

AU - Kratz, Christian P

AU - Thomas, Christoph

AU - Kutsche, Kerstin

PY - 2007

Y1 - 2007

N2 - BACKGROUND: Heterozygous gain-of-function mutations in various genes encoding proteins of the Ras-MAPK signalling cascade have been identified as the genetic basis of Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS). Mutations of SOS1, the gene encoding a guanine nucleotide exchange factor for Ras, have been the most recent discoveries in patients with NS, but this gene has not been studied in patients with CFCS. METHODS AND RESULTS: We investigated SOS1 in a large cohort of patients with disorders of the NS-CFCS spectrum, who had previously tested negative for mutations in PTPN11, KRAS, BRAF, MEK1 and MEK2. Missense mutations of SOS1 were discovered in 28% of patients with NS. In contrast, none of the patients classified as having CFCS was found to carry a pathogenic sequence change in this gene. CONCLUSION: We have confirmed SOS1 as the second major gene for NS. Patients carrying mutations in this gene have a distinctive phenotype with frequent ectodermal anomalies such as keratosis pilaris and curly hair. However, the clinical picture associated with SOS1 mutations is different from that of CFCS. These findings corroborate that, despite being caused by gain-of-function mutations in molecules belonging to the same pathway, NS and CFCS scarcely overlap genotypically.

AB - BACKGROUND: Heterozygous gain-of-function mutations in various genes encoding proteins of the Ras-MAPK signalling cascade have been identified as the genetic basis of Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS). Mutations of SOS1, the gene encoding a guanine nucleotide exchange factor for Ras, have been the most recent discoveries in patients with NS, but this gene has not been studied in patients with CFCS. METHODS AND RESULTS: We investigated SOS1 in a large cohort of patients with disorders of the NS-CFCS spectrum, who had previously tested negative for mutations in PTPN11, KRAS, BRAF, MEK1 and MEK2. Missense mutations of SOS1 were discovered in 28% of patients with NS. In contrast, none of the patients classified as having CFCS was found to carry a pathogenic sequence change in this gene. CONCLUSION: We have confirmed SOS1 as the second major gene for NS. Patients carrying mutations in this gene have a distinctive phenotype with frequent ectodermal anomalies such as keratosis pilaris and curly hair. However, the clinical picture associated with SOS1 mutations is different from that of CFCS. These findings corroborate that, despite being caused by gain-of-function mutations in molecules belonging to the same pathway, NS and CFCS scarcely overlap genotypically.

M3 - SCORING: Zeitschriftenaufsatz

VL - 44

SP - 651

EP - 656

JO - J MED GENET

JF - J MED GENET

SN - 0022-2593

IS - 10

M1 - 10

ER -