|
Schizophrenia
|
0.520 |
GeneticVariation
|
disease |
BEFREE |
Zic2 hypomorphic mutant mice exhibit schizophrenia-related behavioral abnormalities such as cognitive dysfunction and impaired sensorimotor gating and social behaviors, and ZIC2 mutations found in schizophrenia patients included a severely functionally defective one.
|
29442325 |
2018 |
|
Schizophrenia
|
0.520 |
Biomarker
|
disease |
BEFREE |
These results warrant further study of ZIC2 in the pathogenesis of schizophrenia.
|
22355535 |
2011 |
|
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
ZIC2 is a causal gene for holoprosencephaly and encodes a zinc-finger-type transcriptional regulator.
|
22355535 |
2011 |
|
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This usually includes analysis of chromosomes by high-resolution karyotyping, clinical assessment to rule-out well recognized syndromes that are associated with HPE (e.g., Pallister-Hall syndrome, Smith-Lemli-Opitz syndrome and others), and molecular studies of the most common HPE associated genes (e.g., SHH, ZIC2 and SIX3).
|
20104604 |
2010 |
|
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We now report that human ZIC2 maps to this critical deletion region and that heterozygous mutations in ZIC2 are associated with HPE.
|
9771712 |
1998 |
|
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The central nervous system malformations seen in patients with ZIC2 mutations ranged from alobar HPE (most common) to middle interhemispheric fusion defect (one case).
|
11285244 |
2001 |
|
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of ZIC2 is known to cause holoprosencephaly and other brain malformations.
|
22105922 |
2012 |
|
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Unlike HPE due to mutations in other genes, most mutations occur de novo and the distribution of HPE types differs significantly from that of non-ZIC2 related HPE.
|
19955556 |
2010 |
|
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
The occurrence of HPE and the DWM in both of these patients suggests that, in addition to ZIC2, which is important for normal development of the forebrain, there is at least one other dosage-sensitive gene in 13q22-q33 that plays an important role in brain development.
|
12376941 |
2002 |
|
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Zic5 is located near Zic2, which is responsible for human brain malformation syndrome (holoprosencephaly, or HPE).
|
15136147 |
2004 |
|
Holoprosencephaly
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Link between the causative genes of holoprosencephaly: Zic2 directly regulates Tgif1 expression.
|
29391420 |
2018 |
|
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Using samples from a population-based birth defects registry in California, we performed a mutational analysis of the known HPE genes Sonic Hedgehog (SHH), ZIC2, and SIX3, in addition to two HPE candidate genes, TG-interacting factor (TGIF), and Patched (PTC), on a group of sporadic HPE patients.
|
10710230 |
2000 |
|
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
To date, seven genes have been positively implicated in HPE: Sonic hedgehog (SHH), ZIC2, SIX3, TGIF, PTCH, GLI2 and TDGF1.
|
17274816 |
2007 |
|
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the studies confirm the extent of ZIC2 allelic heterogeneity and that pathogenic variants of ZIC2 are associated with both classic and middle interhemispheric variant (MIHV) HPE which arise from defective ventral and dorsal forebrain patterning, respectively.
|
29442327 |
2018 |
|
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
ZIC2 (13q32) was the second gene identified in which mutations cause HPE and recently a specific phenotype was ascribed to ZIC2-mutation HPE.
|
21496007 |
2012 |
|
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutation of Zic2 causes HPE via a transient defect in the function of the organizer region at mid-gastrulation which causes an arrest in the development of the prechordal plate (PCP), a structure required for forebrain midline morphogenesis.
|
18617531 |
2008 |
|
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The most severe HPE types were associated with SIX3 and ZIC2 mutations, whereas microforms were associated with SHH mutations.
|
21940735 |
2011 |
|
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report the comparison of ZIC2 molecular findings by Sanger bidirectional DNA sequencing and ad hoc genotyping in a cohort of 105 Brazilian patients within the clinical spectrum of HPE, including classic and microform groups.
|
22847929 |
2012 |
|
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Because the Zic2 knockdown mouse is the first mutant with HPE and spina bifida to survive to the perinatal period, the mouse will promote analyses of not only the neurulation but also the pathogenesis of human HPE.
|
10677508 |
2000 |
|
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report on a patient with holoprosencephaly caused by a rare ZIC2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia.
|
30894326 |
2020 |
|
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Since human ZIC2 haploinsufficiency is a cause of holoprosencephaly, the Zic2kd/kd mice are regarded as an animal model for holoprosencephaly in humans.
|
11699604 |
2001 |
|
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In order to improve the molecular characterization of 13q monosomy, 12 new patients (9 foetuses and 3 children) were collected based on a cohort of holoprosencephaly (HPE) linked to ZIC2 gene deletion and/or patients with 13q deletion diagnosed by standard karyotype.
|
19022413 |
2009 |
|
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Sequencing of the CDON, SHH, ZIC2, SIX3, and TGIF genes (associated with holoprosencephaly) did not disclose pathogenic alterations.
|
21995818 |
2012 |
|
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
|
11479728 |
2001 |
|
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Variant forms of the ZIC2 protein, associated with HPE in man or mouse, are deficient in their ability to influence SMAD-dependent transcription.
|
27466203 |
2016 |