Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?

Megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth syndrome that is diagnosed by clinical criteria. Recently, somatic and germline variants in genes that are involved in the PI3K-AKT pathway (AKT3, PIK3R2 and PIK3CA) have been described to be associated with MCAP and/or other rel...

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Veröffentlicht in:	European journal of human genetics : EJHG 2015-03, Vol.23 (3), p.409-412
Hauptverfasser:	Döcker, Dennis, Schubach, Max, Menzel, Moritz, Spaich, Christiane, Gabriel, Heinz-Dieter, Zenker, Martin, Bartholdi, Deborah, Biskup, Saskia
Format:	Artikel
Sprache:	eng
Schlagworte:	1-Phosphatidylinositol 3-kinase Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics AKT protein Cardiomyopathy Child Class I Phosphatidylinositol 3-Kinases Comparative Genomic Hybridization Consanguinity Deoxyribonucleic acid DNA Exome Gastric cancer Genes Genetic Variation Genetics Genotype & phenotype Germ-Line Mutation High-Throughput Nucleotide Sequencing Humans Kinases Male Megalencephaly - diagnosis Megalencephaly - genetics Models, Biological Mutation Nevus Patients Pedigree Phenotype Phenotypes Phosphatidylinositol 3-Kinases - genetics Polydactyly Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics Rodents Saliva Short Report Skin Skin Diseases, Vascular - diagnosis Skin Diseases, Vascular - genetics Syndactyly Telangiectasis - congenital Telangiectasis - diagnosis Telangiectasis - genetics
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