|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
OCA type 1, OCA type 2, and OCA type 4, which are respectively caused by mutations in TYR, OCA2, and SLC45A2 have high morbidity rates in Asia.
|
31199599 |
2019 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India.
|
31630438 |
2019 |
|
Albinism, Oculocutaneous
|
0.600 |
Biomarker
|
disease |
BEFREE |
We observed mutations in the TYR, OCA2, and SLC45A2 genes in 25/28 (89%) patients with OCA.
|
29437493 |
2018 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle.
|
28982372 |
2017 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In dog, two independent SLC45A2 variants are known that cause oculocutaneous albinism in Doberman Pinschers and several small dog breeds respectively.
|
28737247 |
2017 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygous mutations (c.832C>T and c.929_930insC) in the TYR gene may be responsible for partial clinical manifestations of OCA, while the homozygous missense mutation c.814G>A (p.Glu272Lys) in the SLC45A2 gene may not be associated with OCA.
|
27829221 |
2016 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The present study analyzed the effects of two human MATP mutations, D93N, which causes oculocutaneous albinism 4 (OCA4), and L374F, which is correlated with light pigmentation in European populations.
|
25760657 |
2015 |
|
Albinism, Oculocutaneous
|
0.600 |
Biomarker
|
disease |
BEFREE |
Genetic counseling of 51 Chinese OCA families (39 OCA-1 with mutations in the TYR gene, 6 OCA-2 with mutations in the OCA2 gene, 4 OCA-4 with mutations in the SLC45A2 gene, 1 HPS-1 (Hermansky-Pudlak syndrome-1) with mutation in the HPS1 gene, and 1 mixed OCA-1 and OCA-4) led us to perform the prenatal genetic testing of OCA using amniotic fluid cells through the implementation of our optimized strategy.
|
26165494 |
2015 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs.
|
24647637 |
2014 |
|
Albinism, Oculocutaneous
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainly responsible for causing oculocutaneous albinism.
|
25093188 |
2014 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our aim is to contribute to OCA4 diagnosis defining SLC45A2 genetic variants in Italian patients with OCA without any TYR, OCA2 and TYRP1 gene defects.
|
24096233 |
2014 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
At least four forms of OCA and one of OA are known, associated with TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4) and GPR143 (OA1) loci, respectively.
|
23668539 |
2013 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TYR, OCA2, TYRP1 and SLC45A2 genes have been shown to cause isolated OCA.
|
22734612 |
2012 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Conventional dideoxy sequencing confirmed pathogenic mutations in SLC45A2, associated with OCA type 4 (OCA-4), and G6PC3, associated with neutropenia.
|
21677667 |
2011 |
|
Albinism, Oculocutaneous
|
0.600 |
Biomarker
|
disease |
BEFREE |
There are a few reports on defects in TYR and a single report on SLC45A2 in Indians affected with OCA but no report on OCA2 (a major locus related to the disease) and TYRP1.
|
20426782 |
2010 |
|
Albinism, Oculocutaneous
|
0.600 |
Biomarker
|
disease |
BEFREE |
Blood samples were collected from 23 probands and 13 affected family members from 23 genetically unrelated Indian families (22 diagnosed as OCA and 1 diagnosed as OA) and analyzed by bidirectional DNA sequencing of the classic OCA genes--tyrosinase (TYR, or oculocutaneous albinism IA), pink eyed dilution (P; or oculocutaneous albinism II (OCA2]), tyrosinase-related protein 1 (TYRP1), solute carrier family 45, member 2 (SLC45A2; or membrane-associated transporter protein [MATP])--and the OA1 gene, G protein-coupled receptor 143 (GPR143).
|
20806075 |
2010 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Mutations in TYR were found in 26% of patients, while OCA2 and MATP caused OCA in 15% and 3%, respectively.No mutations were found in TYRP1.
|
19060277 |
2009 |
|
Albinism, Oculocutaneous
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in TYR were found in 26% of patients, while OCA2 and MATP caused OCA in 15% and 3%, respectively.No mutations were found in TYRP1.
|
19060277 |
2009 |
|
Albinism, Oculocutaneous
|
0.600 |
Biomarker
|
disease |
BEFREE |
To assess the prevalence of different forms of OCA and different gene mutations among non-Hispanic Caucasian patients, we performed DNA sequence analysis of the four genes associated with "classical" OCA (TYR, OCA2, TYRP1, SLC45A2), the two principal genes associated with syndromic OCA (HPS1, HPS4), and a candidate OCA gene (SILV), in 121 unrelated, unselected non-Hispanic/Latino Caucasian patients carrying the clinical diagnosis of OCA.
|
18463683 |
2008 |
|
Albinism, Oculocutaneous
|
0.600 |
Biomarker
|
disease |
LHGDN |
A Chinese case of oculocutaneous albinism type 4 with two novel mutations.
|
18986462 |
2008 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
|
18326704 |
2008 |
|
Albinism, Oculocutaneous
|
0.600 |
Biomarker
|
disease |
LHGDN |
All seven exons and splice-site junctions of SLC45A2 were amplified and sequenced from the OCA patients and from 50 ethnically matched healthy controls.
|
17768386 |
2007 |
|
Albinism, Oculocutaneous
|
0.600 |
Biomarker
|
disease |
BEFREE |
All seven exons and splice-site junctions of SLC45A2 were amplified and sequenced from the OCA patients and from 50 ethnically matched healthy controls.
|
17768386 |
2007 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population.
|
17516931 |
2007 |
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe the analysis of the HPS1 gene in 24 Japanese OCA patients who lacked mutations in the four genes known to cause OCA (TYR/OCA1, P/OCA2, TYRP1/OCA3, and MATP/OCA4), and the identification of eight different HPS1 mutations in ten of these patients, four of which were novel (W583X, L668P, 532insC, 1691delA).
|
16185271 |
2005 |