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New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations
M. Čizmárová, K. Hlinková, S. Bertok, P. Kotnik, HC. Duba, R. Bertalan, K. Poločková, Ľ. Košťálová, Z. Pribilincová, A. Hlavatá, L. Kovács, D. Ilenčíková,
Language English Country England, Great Britain
Document type Journal Article, Research Support, Non-U.S. Gov't
NLK
Medline Complete (EBSCOhost)
from 2003-01-01 to 1 year ago
Wiley Free Content
from 1997 to 2 years ago
PubMed
26607044
DOI
10.1111/ahg.12140
Knihovny.cz E-resources
- MeSH
- White People genetics MeSH
- Child MeSH
- Adult MeSH
- Ectodermal Dysplasia genetics MeSH
- Exons MeSH
- Facies MeSH
- Phenotype MeSH
- Intracellular Signaling Peptides and Proteins genetics MeSH
- Infant MeSH
- Cryptorchidism genetics MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- DNA Mutational Analysis * MeSH
- Failure to Thrive genetics MeSH
- Noonan Syndrome genetics MeSH
- Child, Preschool MeSH
- SOS1 Protein genetics MeSH
- ras Proteins genetics MeSH
- Pulmonary Valve Stenosis genetics MeSH
- Protein Tyrosine Phosphatase, Non-Receptor Type 11 genetics MeSH
- Heart Defects, Congenital genetics MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
We performed the genetic analysis of Rasopathy syndromes in patients from Central European by direct sequencing followed by next generation sequencing of genes associated with Rasopathies. All 51 patients harboured the typical features of Rasopathy syndromes. Thirty-five mutations were identified in the examined patients (22 in PTPN11, two in SOS1, one in RIT1, one in SHOC2, two in HRAS, three in BRAF, two in MAP2K1 and two in the NF1 gene). Two of them (p.Gly392Glu in the BRAF gene and p.Gln164Lys in the MAP2K1 gene) were novel with a potentially pathogenic effect on the structure of these proteins. Statistically significant differences in the presence of pulmonary stenosis (63.64% vs. 23.81%, P = 0.013897) and cryptorchidism (76.47% vs. 30%, P = 0.040224) were identified as the result of comparison of the prevalence of phenotypic features in patients with the phenotype of Noonan syndrome and mutation in the PTPN11 gene, with the prevalence of the same features in patients without PTPN11 mutation. Cryptorchidism as a statistically significant feature in our patients with PTPN11 mutation was not reported as significant in other European countries (Germany, Italy and Greece). The majority of mutations were clustered in exons 3 (45.45%), 8 (22.73%), and 13 (22.73%) of the PTPN11 gene.
2nd Department of Pediatrcs University Children's Hospital Bratislava Slovakia
Department od Pediatric Endocrinology University Teaching Hospital Veszprem Hungary
Department of Human Genetics Women's and Children's Clinic Linz Austria
Department of Pediatric Endocrinology Hospital with Policlinic Karviná Czech Republic
References provided by Crossref.org
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