Macroencephaly
|
0.100 |
Biomarker
|
disease |
BEFREE |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) is a developmental brain disorder characterized by megalencephaly and bilateral perisylvian polymicrogyria due to defects in genes of the PI3K-AKT pathway.
|
31056854 |
2019 |
Macroencephaly
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, some patients presenting mainly isolated megalencephaly or "Cowden-like" features have been described harboring constitutional mutations of PIK3CA.
|
31568861 |
2019 |
Macroencephaly
|
0.100 |
Biomarker
|
disease |
BEFREE |
Alterations of the PI3K/Akt/mammalian target of rapamycin complex 1 (mTORC1) signaling pathway are causally involved in a subset of malformations of cortical development (MCDs) ranging from focal cortical dysplasia (FCD) to hemimegalencephaly and megalencephaly.
|
30687088 |
2018 |
Macroencephaly
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our case highlights the importance of considering PI3K-AKT-mTOR pathway variants as a cause for megalencephaly and cortical malformation when the phenotype includes hypoglycaemia.
|
29883676 |
2018 |
Macroencephaly
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria).
|
28969385 |
2017 |
Macroencephaly
|
0.100 |
Biomarker
|
disease |
BEFREE |
Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging.
|
28086757 |
2017 |
Macroencephaly
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report the identification and evaluation of a novel de novo constitutional PIK3CA mutation (NM_006218.2:c.335T>A, p.Ile112Asn) in a child with congenital megalencephaly and macrosomia.
|
26593112 |
2016 |
Macroencephaly
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identified mosaic activating mutations in PIK3CA and AKT3 in this cohort, including cancer-associated hotspot PIK3CA mutations in dysplastic megalencephaly, hemimegalencephaly, and focal cortical dysplasia type IIa.
|
25722288 |
2015 |
Macroencephaly
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) syndrome, macrodactyly, Fibroadipose Infiltrating Lipomatosis, and the related megalencephaly syndromes, Megalencephaly-Capillary Malformation (MCAP or M-CM) and Dysplastic Megalencephaly (DMEG).
|
25557259 |
2015 |
Macroencephaly
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
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.
|
24939587 |
2015 |
Macroencephaly
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the brain, the phenotypic spectrum of PIK3CA-related segmental overgrowth includes bilateral dysplastic megalencephaly, hemimegalencephaly and focal cortical dysplasia, the most common cause of intractable pediatric epilepsy.
|
26633882 |
2015 |
Macroencephaly
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome.
|
24782230 |
2014 |
Macroencephaly
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These observations suggest that cyclin D2 stabilization, caused by CCND2 mutation or PI3K-AKT activation, is a unifying mechanism in PI3K-AKT-related megalencephaly syndromes.
|
24705253 |
2014 |
Macroencephaly
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the (PI3K)-AKT pathway have been found in association PMG and megalencephaly.
|
24888723 |
2014 |
Macroencephaly
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
|
22729224 |
2012 |