|
rs863225264
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Finally, a constitutional de novo mutation of MTOR (p.Glu1799Lys) was identified in 3 unrelated children with diffuse megalencephaly and intellectual disability.
|
27159400 |
2016 |
|
rs863225264
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Thus, MTOR p.E1799K can now be classified as a pathogenic GOF mutation that causes megalencephaly</span> and cognitive impairment in humans.
|
26542245 |
2015 |
|
rs765798990
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs794729664
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the identification of a novel homozygous variant in PTEN, NM_000314.4; c.545T>C; p.Leu182Ser, in two adolescent siblings with severe macrocephaly and mild intellectual disability.
|
26443266 |
2016 |
|
rs863225460
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs863225460
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs61748404
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a 9-year-old girl with atypical Rett (macrocephaly, preserved speech, and psychiatric manifestations) with a 2MECP2 (P152R) mutation that generally is not associated with these clinical signs.
|
23859859 |
2013 |
|
rs121917758
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We reviewed the phenotype in the newly identified individuals (Patient 1, 2) and include updated information on the first previously reported individual with HRAS p.T58I (Patient 3).Macrocephaly was present in all three.
|
22488832 |
2012 |
|
rs9651492
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a de novo missense mutation (D326N) in a highly conserved amino acid in a 5-year-old boy with autism, mental retardation, language delay, extreme macrocephaly (+9.6 SD) and polydactyly of both feet.
|
17427195 |
2007 |
|
rs121908671
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A missense mutation 640G-->A (A214T) in the low-density lipoprotein receptor-related protein 5 (LRP5) gene was found in all affected individuals analyzed, including cases in whom craniosynostosis, a mild developmental delay, and/or macrocephaly is observed.
|
15940380 |
2005 |
|
rs121909219
|
|
|
0.010 |
GeneticVariation |
BEFREE |
From reported phenotypic data concerning CD patients from five different families who had the R233X mutation, it may be suggested that R233X mutation correlates with macrocephaly.
|
10920277 |
2000 |
|
rs28933068
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Reviewing the clinical and radiological manifestations of the disease a posteriori, we observed that the N540K mutation was associated with relative macrocrania with a high and large forehead and short hands.
|
8880574 |
1996 |