De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

doi:10.1038/ng.2331

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Article

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Nature genetics - 24 Jun 2012

Rivière Jean-Baptiste, Mirzaa Ghayda M, O'Roak Brian J, Beddaoui Margaret, Alcantara Diana, Conway Robert L, St-Onge Judith, Schwartzentruber Jeremy A, Gripp Karen W, Nikkel Sarah M, Worthylake Thea, Sullivan Christopher T, Ward Thomas R, Butler Hailly E, Kramer Nancy A, Albrecht Beate, Armour Christine M, Armstrong Linlea, Caluseriu Oana, Cytrynbaum Cheryl, Drolet Beth A, Innes A Micheil, Lauzon Julie L, Lin Angela E, Mancini Grazia M S, Meschino Wendy S, Reggin James D, Saggar Anand K, Lerman-Sagie Tally, Uyanik Gökhan, Weksberg Rosanna, Zirn Birgit, Beaulieu Chandree L, Majewski Jacek, Bulman Dennis E, O'Driscoll Mark, Shendure Jay, Graham John M, Boycott Kym M, Dobyns William B

Abstract excerpt

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders associated with markedly enlarged brain size and other recognizable features. We performed exome sequencing in 3 families with MCAP or MPPH, and our initial observations were confirmed in exomes from 7 individuals with MCAP and 174 control individuals, as well...

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PMID: 22729224
DOI: 10.1038/ng.2331
PMCID: PMC3408813

Genes

AKT3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.PMID 22729224Read ↗

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