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 |
AlteredExpression
|
disease |
BEFREE |
Link between the causative genes of holoprosencephaly: Zic2 directly regulates Tgif1 expression.
|
29391420 |
2018 |
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 |
3D-imaging of novel mouse Zic2 mutants uncovers, in addition to HPE, laterality defects in lungs, heart, vasculature and viscera.
|
29992973 |
2018 |
Holoprosencephaly
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
ZIC2, a zinc-finger transcription factor, is linked to human holoprosencephaly.
|
28689736 |
2017 |
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 |
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ZIC2, located within region 13q32, cause holoprosencephaly, whereas the 13q32.2q32.3 region is associated with cerebellar vermis hypoplasia (Dandy-Walker syndrome).
|
25454392 |
2015 |
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we present a rare unilateral nasal cleft (Tessier cleft n. 1) with holoprosencephaly in a patient with a ZIC2 mutation.
|
24677696 |
2014 |
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
The objective of the study was to describe the first case of ZIC2-related HPE with both anterior and posterior pituitary insufficiencies.
|
24706429 |
2014 |
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of ZIC2 is known to cause holoprosencephaly and other brain malformations.
|
22105922 |
2012 |
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 |
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 |
Sequencing of the CDON, SHH, ZIC2, SIX3, and TGIF genes (associated with holoprosencephaly) did not disclose pathogenic alterations.
|
21995818 |
2012 |
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly.
|
22859937 |
2012 |
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 |
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 |
No mutations in ZIC2 or in other genes that cause HPE were identified, suggesting that mutation of ZIC2 is a rare cause of, or contributor to, RES associated with HPE.
|
21638761 |
2011 |
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.
|
21416594 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Here we collect and summarize all available mutations in the human ZIC2 gene detected in HPE patients (21 published and 62 novel).
|
19177455 |
2009 |
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 |
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 |
This region of ZIC2 contains an alanine-tract, and expansion of this domain is associated with HPE.
|
15590697 |
2005 |