Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing

@article{Mendez2021OculocutaneousAT,
  title={Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing},
  author={Rodrigo Mendez and Sumaiya Iqbal and Sebasti{\'a}n A Vishnopolska and Cinthia Mart{\'i}nez and Glenda Dibner and Rocio Aliano and Jonathan J. Zaiat and Germ{\'a}n Biagioli and Cecilia S. Fern{\'a}ndez and Adrian Gustavo Turjanski and Arthur J. Campbell and Graciela Mercado and Marcelo Mart{\'i}},
  journal={Ophthalmic Genetics},
  year={2021},
  volume={42},
  pages={291 - 295}
}
ABSTRACT Background: Oculocutaneous albinism (OCA) is a Mendelian disorder characterized by hypopigmentation of the skin, hair, and eyes, hypoplastic fovea, and low vision, known to be caused by mutations in the Tyrosinase (TYR) gene. Among the known TYR variants, some reduce but do not completely eliminate tyrosinase activity, allowing residual production of melanin and resulting in a contradictory assignment as either pathogenic or benign, preventing a precise clinical diagnostic. Materials… 

References

SHOWING 1-10 OF 31 REFERENCES
Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)
TLDR
The outcome of this study has extended the genotypic spectrum of OCA1 patients, which paves the way for more efficient carrier detection and genetic counseling.
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene
TLDR
The R402Q variant leads to variable but generally mild forms of albinism whose less typical presentation may lead to underdiagnosis.
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)
TLDR
The results suggest that a combination of R402Q and S192Y with a deleterious mutation in a ‘tri-allelic genotype’ can account for missing heritability in some hypomorphic OCA1 albinism phenotypes.
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.
TLDR
Two different haplotypes were found associated with the P81L mutation, suggesting that this may be either a recurring mutation for the tyrosinase gene or a recombination between haplotypes.
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
TLDR
Among Moroccan Jews with type IA (i.e., tyrosinase-negative) OCA, a highly predominant mutant allele containing a missense substitution, Gly47Asp (G47D) occurs on the same haplotype as in patients from the Canary Islands and Puerto Rico, suggesting that the G47D mutation in these ethnically distinct populations may stem from a common origin.
Tyrosinase and ocular diseases: Some novel thoughts on the molecular basis of oculocutaneous albinism type 1
Albinism-Causing Mutations in Recombinant Human Tyrosinase Alter Intrinsic Enzymatic Activity
TLDR
The intramelanosomal domains of recombinant wild-type and mutant human tyrosinases are soluble monomeric glycoproteins with activities which mirror their in vivo function, and provide an important tool for the structure – function analyses of different mutant TYR proteins and correlation with their corresponding human phenotypes.
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
TLDR
11 novel mutations of the tyrosinase gene in Caucasian patients with these 2 forms of type I OCA are described, suggesting that these may correspond to functionally important sites within the enzyme.
...
1
2
3
4
...