Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Increasing the complexity: new genes and new types of albinism

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Conjunctival melanoma copy number alterations and correlation with mutation status, tumor features and clinical outcome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Genetics of familial melanoma: 20 years after CDKN2A

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Distribution of risk alleles in patients with age-related macular degeneration

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Prevalence and causes of infantile nystagmus in a large population-based Danish cohort

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Lluís Montoliu
  • Karen Grønskov
  • Ai-Hua Wei
  • Mónica Martínez-García
  • Almudena Fernández
  • Benoît Arveiler
  • Fanny Morice-Picard
  • Saima Riazuddin
  • Tamio Suzuki
  • Zubair M Ahmed
  • Thomas Rosenberg
  • Wei Li
Vis graf over relationer
Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype. This lack or reduction in pigment might affect the eyes, skin, and hair (oculocutaneous albinism, OCA), or only the eyes (ocular albinism, OA). In addition, there are several syndromic forms of albinism (e.g. Hermansky-Pudlak and Chediak-Higashi syndromes, HPS and CHS, respectively) in which the described hypopigmented and visual phenotypes coexist with more severe pathological alterations. Recently, a locus has been mapped to the 4q24 human chromosomal region and thus represents an additional genetic cause of OCA, termed OCA5, while the gene is eventually identified. In addition, two new genes have been identified as causing OCA when mutated: SLC24A5 and C10orf11, and hence designated as OCA6 and OCA7, respectively. This consensus review, involving all laboratories that have reported these new genes, aims to update and agree upon the current gene nomenclature and types of albinism, while providing additional insights from the function of these new genes in pigment cells.
OriginalsprogEngelsk
TidsskriftPigment Cell & Melanoma Research
Vol/bind27
Udgave nummer1
Sider (fra-til)11-18
ISSN1755-1471
DOI
StatusUdgivet - 2014

ID: 40199419