|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Brain malformations caused by 17p13.3 deletions include lissencephaly with deletions of the larger Miller-Dieker syndrome region or smaller deletions of only PAFAH1B1, white matter changes, and a distinct syndrome due to deletions including YWHAE and CRK but sparing PAFAH1B1.
|
30568308 |
2019 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Miller-Dieker syndrome (MDS) is caused by a heterozygous deletion of chromosome 17p13.3 involving the genes LIS1 and YWHAE (coding for 14.3.3ε) and leads to malformations during cortical development.
|
28380362 |
2017 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Fluorescence in situ hybridization using a commercially available LIS1 probe failed to detect a deletion, but chromosomal microarray analysis detected a 2.50-Mb microdeletion in 17p13.3 which involved partially the LIS1 gene, and thus was compatible with Miller-Dieker syndrome.
|
23933666 |
2014 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The 17p13.3 microduplication syndrome is associated with mild intellectual disabiltiy and contains, among others, the PAFAH1B1 (LIS1) gene, whereas microdeletions of the same segment cause Miller-Dieker syndrome (MDS) with severe to profound retardation.
|
23633430 |
2013 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, it interacts with the LIS1 gene of which haploinsufficiency causes a severe neuronal migration disorder in humans, known as classical lissencephaly or Miller-Dieker syndrome.
|
22368300 |
2012 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome.
|
23035971 |
2012 |
|
Miller Dieker syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
LIS1 gene is located in the region of chromosome 17p13.3 that is frequency deleted in MDL patients and in human liver cancer cells.
|
21569763 |
2011 |
|
Miller Dieker syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
LIS1 is the deleted gene within this region and is thought to directly cause isolated lissencephaly sequence and contribute to Miller-Dieker syndrome.
|
20833799 |
2011 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of PAFAH1B1 (encoding LIS1) causes either isolated lissencephaly sequence or Miller-Dieker syndrome, depending on the size of the deletion.
|
20452996 |
2010 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Deletions of the PAFAH1B1 gene (encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including the YWHAE gene (encoding 14-3-3epsilon) cause Miller-Dieker syndrome.
|
19136950 |
2009 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Six different genes could be responsible for this entity (LIS1, DCX, TUBA1A, VLDLR, ARX, RELN), although co-delection of YWHAE gene with LIS1 could result in Miller-Dieker Syndrome.
|
19120042 |
2009 |
|
Miller Dieker syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
For 21 patients (19%), this included molecular and/or genetic confirmation (Miller-Dieker syndrome; LIS1, DCX, FLNA, EIF2AK3, or KIAA1279 mutations; or an inborn error of metabolism).
|
18332248 |
2008 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Miller-Dieker syndrome exhibits classical lissencephaly and is related to defects in the lissencephaly gene (LIS1).
|
18384621 |
2008 |
|
Miller Dieker syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
PAFAH1B1/LIS1 and YWHAE, which were deleted in isolated lissencephaly (PAFAH1B1/LIS1 alone) and Miller-Dieker syndrome (both genes), were found to be duplicated in patients with developmental delay.
|
19287139 |
2008 |
|
Miller Dieker syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
This report documents a Miller-Dieker syndrome patient who tested normal when a commercially available LIS1 fluorescence in situ hybridization study probe was used but was later demonstrated to have a partial deletion of the LIS1 locus.
|
17437911 |
2007 |
|
Miller Dieker syndrome
|
0.600 |
ChromosomalRearrangement
|
disease |
ORPHANET |
On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3 epsilon in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS.
|
12621583 |
2003 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3 epsilon in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS.
|
12621583 |
2003 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PAFAH1B1 (the gene encoding LIS1) are responsible for ILS and contribute to MDS, but the genetic causes of the greater severity of MDS are unknown.
|
12796778 |
2003 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Gene mutations associated with epilepsy are known, to date, only for two disorders: the lissencephaly 1 gene in Miller-Dieker syndrome and mutations in the UBE3A gene in Angelman syndrome.
|
11579431 |
2001 |
|
Miller Dieker syndrome
|
0.600 |
Biomarker
|
disease |
MGD |
Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization.
|
11344260 |
2001 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have created a physical map covering approximately 3.5 Mb (6 cM)in this region, spanning the RP13 interval and extending distally to the gene MDCR (formerly, LIS1), which, when deleted, leads to the MDLS phenotype.
|
10828595 |
2000 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These findings and the phenotype of the proposita, strongly suggest that genes telomeric to LIS1 and locus D17S379 are involved in many clinical findings, including the minor facial anomalies of the Miller-Dieker syndrome.
|
10406660 |
1999 |
|
Miller Dieker syndrome
|
0.600 |
Biomarker
|
disease |
MGD |
Impaired learning and motor behavior in heterozygous Pafah1b1 (Lis1) mutant mice.
|
10541472 |
1999 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We compared the phenotype, especially brain imaging studies, in a series of 48 children with lissencephaly, including 12 with Miller-Dieker syndrome (MDS), which is associated with large deletions of LIS1 and other genes in the region, 24 with isolated lissencephaly sequence caused by smaller LIS1 deletions or mutations, and 12 with isolated lissencephaly sequence caused by XLIS mutations.
|
10430413 |
1999 |
|
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Reiner et al.(1995b) reported on the existence of a gene with a coding region virtually identical to LIS1, the gene responsible for Miller-Dieker lissencephaly.
|
10575211 |
1999 |