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De novo SOX10 Nonsense Mutation in a Patient with Kallmann Syndrome, Deafness, Iris Hypopigmentation, and Hyperthyroidism.
Wang F, Zhao S, Xie Y, Yang W, Mo Z. Wang F, et al. Ann Clin Lab Sci. 2018 Mar;48(2):248-252. Ann Clin Lab Sci. 2018. PMID: 29678855
Molecular analysis detected a de novo (c.565G>T/p.E189X) mutation in SOX10, which has previously been reported in a patient with WS4 (WS with Hirschsprung). The mutation was predicted to be probably damaging. These results highlight the significance of SOX10 haploinsuff …
Molecular analysis detected a de novo (c.565G>T/p.E189X) mutation in SOX10, which has previously been reported in a patient with WS4 (WS …
Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.
Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, Fukami M, Naiki Y. Suzuki E, et al. Horm Res Paediatr. 2015;84(3):212-6. doi: 10.1159/000436965. Epub 2015 Jul 29. Horm Res Paediatr. 2015. PMID: 26228106
Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS) characterized by deafness, skin/hair/iris hypopigmentation, Hirschsprung disease, and neurological defects, have been identified in a few patients with KS and deafness. ...RESULTS …
Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS) characterized by deafness, skin/hair/iris h …
Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.
Xiao X, Zhang Q. Xiao X, et al. Am J Med Genet A. 2009 Aug;149A(8):1786-8. doi: 10.1002/ajmg.a.32818. Am J Med Genet A. 2009. PMID: 19610097
Affected males are characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, fundus hypopigmentation, macular hypoplasia, and normally pigmented skin and hair. ...An unusual phenotype of iris hyperpigmentation without translucency …
Affected males are characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, fundus hypopig …