Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous GLI2 loss of function mutations in humans have been reported in holoprosencephaly (HPE), HPE-like phenotypes associated with pituitary anomalies and combined pituitary hormone deficiency with or without other extra-pituitary findings.
|
30548673 |
2019 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
CTD_human |
Although normally indistinguishable from wild-type littermates, we demonstrate that mice with single-allele Gli2 mutations exhibit increased penetrance and severity of HPE in response to low-dose teratogen exposure.
|
27585885 |
2016 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Sonic Hedgehog (SHH) and GLI2, an obligatory mediator of SHH signal transduction, are holoprosencephaly (HPE)-associated genes essential in pituitary formation.
|
25056824 |
2015 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, the family presented here is unique as none of the three identified individuals with a GLI2 deletion showed any typical signs of holoprosencephaly, whereas all patients reported so far were referred for genetic testing because at least one member exhibited holoprosencephaly and related features.
|
25820550 |
2015 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pituitary insufficiency other than isolated diabetes insipidus is a rare finding of HPE, and occurs most frequently in patients with GLI2 mutations (the phenotype of which typically does not include frank neuroanatomic anomalies such as HPE); ours is the only described patient with a ZIC2 mutation and both anterior and posterior pituitary dysfunction.
|
24706429 |
2014 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
|
24744436 |
2014 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Genomic GLI2 aberrations that mainly result in truncated proteins have been reported to cause holoprosencephaly or holoprosencephaly-like features, sometimes associated with hypopituitarism.
|
23408573 |
2013 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous nonsense GLI2 mutations have been reported in patients with isolated or combined pituitary hormone deficiency (CPHD), with or without holoprosencephaly.
|
22967285 |
2013 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GLI2 have been found in association with holoprosencephaly (HPE) and HPE-like phenotype, with and without pituitary hormone deficiencies; as well as in patients with pituitary dysfunction with and without HPE craniofacial features.
|
23304807 |
2012 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human GLI2 gene were first reported in association with defective anterior pituitary formation, panhypopituitarism, and forebrain anomalies represented by typical holoprosencephaly (HPE) and holoprosencephaly-like (HPE-L) phenotypes and postaxial polydactyly.
|
21204792 |
2012 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report here on a patient with a mild holoprosencephaly spectrum phenotype (bilateral cleft lip and palate and abnormal pituitary gland formation with panhypopituitarism) and normal psychomotor development, who was found to carry a 1.3 Mb submicroscopic heterozygous deletion in 2q14.2, encompassing the GLI2 gene.
|
22106008 |
2012 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present the description of a family simultaneously segregating two novel variants in the HPE-associated genes, ZIC2 and GLI2, as well as the results of extensive population-based studies of the variant region in GLI2.
|
21416594 |
2011 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
GLI2 mutations were reported in patients with holoprosencephaly (HPE) and pituitary abnormalities.
|
20685856 |
2010 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic causes are responsible for about 20% of cases: they are chromosomal abnormalities and gene mutations: up to date, nine genes (SHH, ZIC2, SIX3, TGIF, PATCHED1, TDGF1/CRIPTO, FAST1, GLI2 and DHCR) are definitely associated with HPE, but many others candidate gene are under investigation.
|
21183895 |
2010 |
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 |
Biomarker
|
disease |
BEFREE |
Mutation analysis of the seven genes (SHH, ZIC2, SIX3, TGI, FTDGF1, GLI2, and PTCH) known to be involved in holoprosencephaly was normal.
|
17103456 |
2006 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that loss-of-function mutations in the human GLI2 gene are associated with a distinctive phenotype (within the HPE spectrum) whose primary features include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial hypoplasia.
|
14581620 |
2003 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|