|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.
|
24934919 |
2014 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Of 75 unrelated patients that were screened, 18 individuals (24%) were identified as having OCA4; they harbored seven novel mutations, including four missense mutations (P58S, D157N, G188V, and V507L) and three frameshift mutations (S90CGGCCA-->GC, V144insAAGT, and V469delG), showing that MATP is the most frequent locus for tyrosinase-positive OCA in Japanese patients.
|
14961451 |
2004 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.
|
7704033 |
1995 |
|
Albinism, Oculocutaneous
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene) may be responsible for partial clinical manifestations of OCA.
|
25919014 |
2015 |
|
Albinism, Oculocutaneous
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Whole exome or direct sequencing showed that two of the children had Hermansky-Pudlak syndrome (HPS) type-1 (HPS-1), one had HPS-3, one had HPS-4, and four had non-syndromic oculocutaneous albinism associated with TYR variants (OCA1).
|
30791930 |
2019 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Published data on OCA families proposed that ~40% have been associated with genetic variations in the TYR gene.
|
30996339 |
2019 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population.
|
17516931 |
2007 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutational mapping of the catalytic activities of human tyrosinase.
|
1429711 |
1992 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
|
25919014 |
2015 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
These results provide the basis for a possible chemical chaperone therapy to recover tyrosinase activities in patients with OCA type 1A patients.
|
30447237 |
2019 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
CTD_human |
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).
|
9158138 |
1997 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
|
23324268 |
2013 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Previous studies have shown that AROA in some cases constitutes a clinically mild presentation of oculocutaneous albinism (OCA), due to mutations in either the TYR (OCA1) or OCA2 (P) genes.
|
18326704 |
2008 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
There are four known types of OCA: OCA1-OCA4.
|
12469324 |
2003 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
LHGDN |
Some OCAI mutations were shown to delete the transmembrane domain or to affect its hydrophobic properties, resulting in soluble tyrosinase mutants that are retained in the endoplasmic reticulum (ER).
|
15677452 |
2005 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
|
20861488 |
2011 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
|
28451379 |
2017 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
OCA1 is the most frequent subtype of OCA, caused by mutations in the tyrosinase gene (TYR).
|
30341532 |
2018 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
DNA analysis revealed that the patient is a compound heterozygote for mutations in the tyrosinase gene, which is typically associated with overt, generalized oculocutaneous albinism and severe ocular symptoms.
|
20006830 |
2009 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
Type II (tyrosinase-positive) OCA results from abnormalities of the 'P' polypeptide, which may be a melanosomal tyrosine transporter.
|
7849740 |
1994 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
|
8128955 |
1994 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin.
|
25216246 |
2014 |