Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Three of the remaining families had (likely) pathogenic variants in the JBTS gene C5orf42, and one patient had a novel de novo frameshift variant in SHH known to cause autosomal dominant holoprosencephaly.
|
29321670 |
2018 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Holoprosencephaly and sacral dysgenesis are found in association with this deletion, due to haploinsufficiency of SHH and HLBX9 genes respectively.
|
27614115 |
2016 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
CTD_human |
Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.
|
27585885 |
2016 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although mutations in the sonic hedgehog gene SHH and more than 10 other genes are known to cause holoprosencephaly, many patients remain without a molecular diagnosis.
|
25218063 |
2015 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
CTD_human |
The inhibitors of the NODAL and SHH pathways, even at low concentration, acted synergistically to promote an HPE-like phenotype.
|
23264560 |
2013 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Sequencing of the CDON, SHH, ZIC2, SIX3, and TGIF genes (associated with holoprosencephaly) did not disclose pathogenic alterations.
|
21995818 |
2012 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Sonic Hedgehog (SHH) gene result in HPE in humans and mice, and the Shh pathway is targeted by other mutations that cause HPE.
|
22383895 |
2012 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
We identified a de novo nucleotide change, c.301-19G > A, in intron 1 of SHH in a four year old boy with a microform of holoprosencephaly.
|
21044704 |
2011 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report here that whereas mice lacking the Cdo paralog Boc do not have HPE, Cdo;Boc double mutants on a largely Cdo-resistant genetic background have lobar HPE with strong craniofacial anomalies and defects in Shh target gene expression in the developing forebrain.
|
21183473 |
2011 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in the four main genes involved in HPE (SHH, ZIC2, SIX3, TGIF) were identified in 25% of cases.
|
21940735 |
2011 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the present study we performed mutational analysis of the entire coding region of the SHH gene in 37 unrelated individuals with the HPE spectrum.
|
19398181 |
2010 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
|
20531442 |
2010 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate that in a subset of patients SCH may develop as one aspect of a more complex malformation of the ventral forebrain, directly result from mutations in the SHH pathway and hence be considered as yet another feature of the broad phenotypic spectrum of holoprosencephaly.
|
20157829 |
2010 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
|
19603532 |
2009 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SHH gene are the most common cause of sporadic and inherited holoprosencephaly (HPE), a developmental disorder that is characterized by defective prosencephalon development.
|
19057928 |
2009 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Mutations in the SHH gene are the most common cause of sporadic and inherited holoprosencephaly (HPE), a developmental disorder that is characterized by defective prosencephalon development.
|
19057928 |
2009 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a patient with unbalanced 3p;7q translocation, showing 7q deletion (including SHH gene) and 3p duplication (complete karyotype was 46,XY,der(7)t(3;7)(p26.3;q36.1)), presenting with a relatively mild phenotype, consisting of microphthalmia and microcephaly, without cerebral anomalies typical of holoprosencephaly.
|
18762283 |
2009 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We performed mutational analysis in the four main HPE causing genes (SHH, SIX3, TGIF, and ZIC2) and GLI3, a gene associated with polydactyly as well as fluorescent in situ hybridization (FISH) to search for microdeletions in these genes and two candidate HPE genes (DISP1 and FOXA2).
|
18178536 |
2008 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here we describe a rare nucleotide variant located 460 kb upstream of SHH in an individual with HPE that resulted in the loss of Shh brain enhancer-2 (SBE2) activity in the hypothalamus of transgenic mouse embryos.
|
18836447 |
2008 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Terminal deletions of the long arm of chromosome 7 are well known and are frequently associated with hypotelorism or holoprosencephaly due to the involvement of the SHH gene located in 7q36.3.
|
18348270 |
2008 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Numerous genetic loci and environmental factors are implicated in HPE, but mutation in the sonic hedgehog (Shh) gene is an established cause in both humans and mice.
|
17525797 |
2007 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
CTD_human |
Numerous genetic loci and environmental factors are implicated in HPE, but mutation in the sonic hedgehog (Shh) gene is an established cause in both humans and mice.
|
17525797 |
2007 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
We report 22 patients with normal neuropsychological development and a holoprosencephaly-like (HPE-like) phenotype screened for SHH, SIX3, TGIF, and GLI2.
|
17001669 |
2006 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that patients with SHH mutations and a HPE-like phenotype have normal cognitive ratios and significant language impairment.
|
16752381 |
2006 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Holoprosencephaly is addressed under the following headings: alobar, semilobar, and lobar holoprosencephaly; arrhinencephaly; agenesis of the corpus callosum; pituitary abnormalities; hindbrain abnormalities; syntelencephaly; aprosencephaly/atelencephaly; neural tube defects; facial anomalies; median cleft lip; minor facial anomalies; single maxillary central incisor; holoprosencephaly-like phenotype; epidemiology; genetic causes of holoprosencephaly; teratogenic causes of holoprosencephaly; SHH mutations; ZIC2 mutations; SIX3 mutations; TGIF mutations; PTCH mutations; GLI2 mutations; FAST1 mutations; TDGF1 mutations; and DHCR7 mutations.
|
17001700 |
2006 |