Clinical utility gene card for: Oculocutaneous albinism

Grønskov, Karen; Brøndum‐Nielsen, Karen; Lorenz, Birgit; Preising, Markus N.

doi:10.1038/ejhg.2013.307

Cited by 17 publications

(14 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Potentially causative variants and regions low coverage are Sanger-sequenced. MLPA is used for detection of duplications and deletions in GPR143, CACNA1F, TYR, OCA2 and SLC45A2 (2). Sanger sequencing is also used for family segregation studies.…”

Section: Test Strategymentioning

confidence: 99%

See 1 more Smart Citation

Genetic testing for ocular albinism and oculocutaneous albinism

Abeshi

Marinelli

Beccari

et al. 2017

The EuroBiotech Journal

View full text Add to dashboard Cite

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular albinism and oculocutaneous albinism. Ocular albinism has X-linked recessive inheritance, with a prevalence that varies from 1/40000 to 1/1000000, and is caused by mutations in the GPR143 and CACNA1F genes. Oculocutaneous albinism has autosomal recessive inheritance, with an overall prevalence of 1/17000, and is caused by mutations in the TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and C10orf11 genes. Clinical diagnosis involves ophthalmological examination, testing of visually evoked potentials (VEP) and electrophysiological testing (ERG). The genetic test is useful for confirming diagnosis, differential diagnosis, for couple risk assessment and access to clinical trials.

show abstract

Section: Test Strategymentioning

confidence: 99%

“…Clinical sensitivity: variations in genes associated with ocular albinism and oculocutaneous albinism are not constant and vary from >75% for OCA1A to 50% for other individuals who show a degree of pigmentation (2).…”

Section: Clinical Sensitivity (Proportion Of Positive Tests If the DImentioning

confidence: 99%

Genetic testing for ocular albinism and oculocutaneous albinism

Abeshi

Marinelli

Beccari

et al. 2017

The EuroBiotech Journal

View full text Add to dashboard Cite

show abstract

“…OCA2 is more common particularly in Africa but less severe than OCA1, the estimated frequency of OCA2 is 1:3900-10 000 in Africans and 1:36 000 in Europeans [8]. Mutations in the OCA2 gene (OMIM # 611409) cause OCA2 phenotypes.…”

Section: Oca2mentioning

confidence: 99%

“…OCA3 is rare among Europeans, however it's estimated frequency is approximately 1:8500 in Africans [8]. Mutations in Tyrosinase related protein 1 (TYRP1) gene (OMIM#115501) causes OCA3 phenotypes.…”

Section: Oca3mentioning

confidence: 99%

See 1 more Smart Citation

MC1R gene variants involvement in human OCA phenotype

2016

View full text Add to dashboard Cite

Oculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogeneous group of disorders and seven types of OCA are caused by mutations in TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4), SLC24A5 (OCA6) and C10oRF11 (OCA7) genes. However, MC1R gene variants have been reported that modify OCA2 phenotype but the knowledge about the function ofMC1R gene in melanogenesis, and genotype-phenotype association, in case of OCA, is limited. In this review article we present a comprehensive description of classification of OCA, role of MSH-R in melanin synthesis, the sequence variations in MC1R and their association with OCA. This review will enhance our understanding of MC1R gene variants involved in human OCA2 phenotype.

show abstract