Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Since only dominant mutations within OTX2 have been associated with cases of syndromic microphthalmia, retinal dystrophy with or without pituitary dysfunctions, this represents the first report of an OTX2 recessive mutation.
|
30773800 |
2019 |
Microphthalmos
|
0.200 |
Biomarker
|
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 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Seven out of 8 different identified mutations occurred in well-known microphthalmia/anophthalmia genes (OTX2, VSX2, MFRP, VSX1) or in genes associated with syndromes that include ocular defects (CHD7, COL4A1) (including two instances of CHD7 pathogenic variants).
|
30181649 |
2018 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Syndromic microphthalmia due to mutations in OTX2 can present with significant intrafamilial phenotypic variability.
|
28388256 |
2017 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency.
|
26974134 |
2016 |
Microphthalmos
|
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 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in OTX2 are mostly identified in patients with anophthalmia/microphthalmia with variable severity.
|
27378064 |
2016 |
Microphthalmos
|
0.200 |
Biomarker
|
disease |
BEFREE |
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
|
25542770 |
2015 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In severe bilateral cases (anophthalmia or severe microphthalmia) the genetic cause is now identifiable in approximately 80 percent of cases, with de novo heterozygous loss-of-function mutations in SOX2 or OTX2 being the most common.
|
24859618 |
2014 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of BMP4 and OTX2 often lead to eye defects, including anophthalmia-microphthalmia.
|
23103883 |
2013 |
Microphthalmos
|
0.200 |
Biomarker
|
disease |
BEFREE |
OTX2, a known microphthalmia locus, was screened in this family and a frameshifting mutation was found.
|
22577225 |
2012 |
Microphthalmos
|
0.200 |
Biomarker
|
disease |
BEFREE |
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
|
20486942 |
2011 |
Microphthalmos
|
0.200 |
GeneticVariation
|
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 |
Microphthalmos
|
0.200 |
Biomarker
|
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 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The homeobox gene OTX2 is located at 14q22.3 and has recently been identified as mutated in AM patients.
|
18781617 |
2008 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.
|
17406642 |
2007 |
Microphthalmos
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|