Archive for September, 2013

New types of oculocutaneous albinism

Saturday, September 28th, 2013
New types of oculocutaneous albinism. Pictures taken from figures published in Montoliu et al. (Pigment Cell & Melanoma Res., 2013 Sep 21. doi: 10.1111/pcmr.12167). Top panel: OCA5 subjects; Middle panel: OCA6 subjects; Bottom panel: OCA7 subjects.

New types of oculocutaneous albinism. Pictures taken from figures published in Montoliu et al. (Pigment Cell & Melanoma Res., 2013 Sep 21. doi: 10.1111/pcmr.12167). Top panel: OCA5 subjects; Middle panel: OCA6 subjects; Bottom panel: OCA7 subjects.

Three new types of oculocutaneous albinism have been reported recently. OCA5 was first described by Zubair Ahmed’s lab in a Pakistani family and has been associated with a region within human chromosome 4 (4q24). OCA6 was first described by Wei Li’s lab in a Chinese family and is associated with mutations in the SLC24A5 gene. OCA7 was first described by Karen Gronskov and Thomas Rosenberg’s labs in a Denish family and is associated with mutations in the C10orf11 gene. These three new types of oculocutaneous albinism have been discussed in a collaborative review just published online in Pigment Cell & Melanoma Research:

Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W.
  • 4q24 ==> OCA5
  • SLC24A5 ==> OCA6
  • C10orf11 ==> OCA7

Pigment Cell & Melanoma Research 26:5 (September 2013 issue)

Monday, September 2nd, 2013
Pigment Cell & Melanoma Research 26:5 (September 2013 issue)

Pigment Cell & Melanoma Research 26:5 (September 2013 issue)


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