Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We surveyed the functional consequences of a novel OTX2 mutation that was detected in a patient with anophthalmia and CPHD.
|
18854396 |
2009 |
Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We also identified one heterozygous 6.5-Mb deletion encompassing OTX2 in a patient with bilateral anophthalmia and multiple pituitary hormone deficiency.
|
25342853 |
2015 |
Anophthalmos
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
The expression pattern of OTX2 in human embryos is consistent with the eye phenotypes observed in the patients, which range from bilateral anophthalmia to retinal defects resembling Leber congenital amaurosis and pigmentary retinopathy.
|
15846561 |
2005 |
Anophthalmos
|
0.200 |
Biomarker
|
disease |
BEFREE |
Seventy patients having non-syndromic forms of colobomatous microphthalmia (n=25), isolated microphthalmia (n=18), or anophthalmia (n=17), and syndromic forms of micro/anophthalmia (n=10) were included in this study after negative molecular screening for OTX2, RAX, SOX2, and CHX10 mutations.
|
21203406 |
2010 |
Anophthalmos
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
|
29178648 |
2017 |
Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
|
18781617 |
2008 |
Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
|
18781617 |
2008 |
Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of BMP4 and OTX2 often lead to eye defects, including anophthalmia-microphthalmia.
|
23103883 |
2013 |
Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability.
|
30268123 |
2018 |
Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in OTX2 are mostly identified in patients with anophthalmia/microphthalmia with variable severity.
|
27378064 |
2016 |
Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in OTX2 cause hypopituitarism, ranging from isolated growth hormone deficiency to combined pituitary hormone deficiency (CPHD), which are commonly detected in association with severe eye abnormalities, including anophthalmia or microphthalmia.
|
27299576 |
2016 |
Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In humans, OTX2 mutations result in anophthalmia/microphthalmia (A/M) often associated with systemic anomalies.
|
20486942 |
2011 |
Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Fifty-one patients suffering from nonsyndromic microphthalmia (n = 40) or anophthalmia (n = 11) were included in this study after negative molecular screening for SOX2, OTX2, RAX, and CHX10 mutations.
|
19397404 |
2009 |
Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel pathogenic variant in OTX2, c.651delC, p.(Thr218Hisfs*76), in a patient with syndromic bilateral anophthalmia and a hemizygous pathogenic variant in NDP, c.293 C>T, p.(Pro98Leu), in two brothers with isolated bilateral microphthalmia and sclerocornea were also identified.
|
26130484 |
2016 |
Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.
|
20396904 |
2010 |
Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel heterozygous OTX2 missense mutation was identified in a patient showing bilateral anophthalmia who inherited the variant from a parent who was a carrier, but showed no sign of the condition.
|
29178648 |
2017 |
Anophthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.
|
18628516 |
2008 |
Anophthalmos
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|