“A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1 - Nature.com” plus 1 more

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A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1 - Nature.com Posted: 03 Mar 2016 12:00 AM PST 1 Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A . An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 1992; 355: 637–638. CAS  Article  Google Scholar  2 Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT . Mutation in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome(WS-III) as well as Waardenburg syndrome Type-I(WS-I). Am J Hum Genet 1993; 52: 455–462. CAS  PubMed  PubMed Central  Google Scholar  3 Read AP, Newton VE . Waardenburg syndrome. J Med Genet 1997; 34: 656–665. CAS  Article  Google Scholar  4 Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH Jr, Beighton P et al. Waardenburg Syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium. Am J Hum Genet 1992; 50: 902–913. CAS  PubMed  PubMed Central  Google Scholar  5 Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK . Waardenburg syndrome. Int J Dermatol 1999; 38: 656–663. CAS  Article  Google Scholar  6 Birrane G, Soni A, Ladias JAA . Structual basis for DNA recognition by the human PAX3 homeodomain. Biochemistry 2009; 48: 1148–1155. CAS  Article  Google Scholar  7 Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248–249. CAS  Article  Google Scholar  8 Schwarz JM, Cooper DN, Schuelke M, Seelow D . MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 2014; 11: 361–362. CAS  Article  Google Scholar  9 Baldwin CT, Hoth CF, Macina RA, Milunsky A . Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature. Am J Med Genet A 1995; 58: 115–122. CAS  Article  Google Scholar  10 Carey ML, Friedman TB, Asher JH Jr, Innis JW . Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. J Med Genet 1998; 35: 248–250. CAS  Article  Google Scholar  11 Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N et al. Review and update of mutations causing Waardenburg syndrome. Human Mutation 2010; 31: 391–406. CAS  Article  Google Scholar  12 Jalilian N, Tabatabaiefar MA, Farhadi M, Bahrami T, Noori-Daloii MR . A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family. Int J Pediatr Otorhinolaryngol 2015; 79: 1736–1740. Article  Google Scholar  13 Wildhardt G, Zirn B, Graul-Neumann LM, Wechtenbruch J, Suckfüll M, Buske A et al. Spectrum of novel mutations found in Waardenburg syndrome type1 and 2: Implications for molecular genetic diagnosis. BMJ Open 2013; 3: e001917. Article  Google Scholar  14 Tamayo ML, Gelvez N, Rodriguez M, Florez S, Varon C, Medina D et al. Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability. Am J Med Genet A 2008; 146A: 1026–1031. Article  Google Scholar

Indonesian tribe with extremely rare electric blue eyes due to genetic fluke photographed - Daily Mail Posted: 01 Oct 2020 12:00 AM PDT An indigenous tribe on an Indonesian island who have uniquely piercing blue eyes due to a genetic fluke have been captured in a stunning set of photographs. The Buton people are from Indonesia's 19th largest island, Buton Island, which is located in the southeast Sulawesi region of Indonesia.  They are divided into several smaller tribes of which some have a rare condition known as Waardenburg Syndrome, which affects pigmentation. This leaves them with electric blue eyes, something that is extremely rare in Indonesia, where most people have dark hair and dark eyes. A boy from indigenous tribe on Buton Island in Indonesia that have uniquely piercing blue eyes due to the hereditary Waardenburg syndrome poses with a leaf The Waardenburg syndrome is a hereditary genetic mutation that is estimated to be present in a some form in 1 in 42,000 people In addition to its sometimes startling effect on eye pigmentation, including causing eyes of different colours, Waardenburg syndrome can also lead to a loss of hearing The Waardenburg syndrome is a hereditary genetic mutation that is estimated to be present in a some form in 1 in 42,000 people.  In addition to its sometimes startling effect on eye pigmentation, including causing eyes of different colours, it can also lead to a loss of hearing. The Buton tribe was photographed by Korchnoi Pasaribu, a geologist from the capital of Jakarta, Indonesia, during a visit to the island on September 17. The 38-year old photographer and father of two has been documenting life in rural Indonesia since September 2019, with a particular focus on its many tribes and cultural heritage. The Buton tribe was photographed by Korchnoi Pasaribu, a geologist from the capital of Jakarta, Indonesia, during a visit on September 17, 2020. This image is titled Heal The World Korchnoi Pasaribu has been documenting life in rural Indonesia since September 2019, with a particular focus on its many tribes and cultural heritage With a size of 1,700 square miles, Buton Island is one of Indonesia's larger islands. Its population totals just under 450,000 people of which many live in small, isolated tribes He said that photography is not his full-time profession, but rather his love and hobby. Pasaribu said: 'I actually work as a geologist, at nickel mining, and photography is my hobby.' He said he found the blue eyed tribe inspiring because they are so unique. Pasaribu said: 'Blue eyes are unique and beautiful and they are my inspiration. Blue is the favourite eye colour for me.' Pasaribu said he found the blue eyed tribe inspiring because they are so unique. He said: 'Blue eyes are unique and beautiful and they are my inspiration. Blue is the favourite eye colour for me' The Buton people are from Indonesia's 19th largest island, Buton Island, which is located in the Southeast Sulawesi region of Indonesia Indonesia is a vast archipelago with over 350 dialects and subcultures.  With a size of 1,700 square miles, Buton Island is one of Indonesia's larger islands.  Its population totals just under 450,000 people of which many live in small, isolated tribes.  The majority of the island is covered with rainforest.

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