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Article

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

European journal of human genetics : EJHG - 1 Mar 2015

Döcker Dennis, Schubach Max, Menzel Moritz, Spaich Christiane, Gabriel Heinz-Dieter, Zenker Martin, Bartholdi Deborah, Biskup Saskia

Abstract excerpt

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 related megalencephaly syndromes. We performed trio-exome sequencing in a 6-year-old boy and his healthy parents....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24939587
DOI: 10.1038/ejhg.2014.118
PMCID: PMC4326712

Genes

PTPN11
AKT3

Variants

Provenance

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