PURPOSE: To perform molecular analysis of five Korean patients with oculocutaneous albinism (OCA) and review the clinical and genetic characteristics of 21 Korean OCA patients. METHODS: TYR, OCA2 and SLC45A2 were analyzed by direct DNA sequencing in five unrelated OCA patients who received thorough ophthalmic evaluation. RESULTS: We identified three different TYR mutations in three patients (c.929dupC, R278X, and R52I), among which the latter two had been previously reported in other populations, but are reported here for the first time in a Korean context. In one patient we identified two different mutations of OCA2 [c.1784+1G>A and c.1842G>T (K614N)]. One patient was confirmed to have OCA4 by detecting two SLC45A2 mutations [c.469G>A (D157N) and c.686G>A (C229Y)]. OCA1A (66.7%) was the most common subtype in 21 Korean albinism patients, and 70% of patients were heterozygotes for 2 different mutational alleles. c.929dupC (54.8%) and R77Q (16.1%) were the most frequent mutational alleles of TYR in Koreans. CONCLUSIONS: Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with OCA, and we report the first Korean case of OCA2 with the OCA2 gene mutations.
PURPOSE: To perform molecular analysis of five Korean patients with oculocutaneous albinism (OCA) and review the clinical and genetic characteristics of 21 Korean OCA patients. METHODS:TYR, OCA2 and SLC45A2 were analyzed by direct DNA sequencing in five unrelated OCA patients who received thorough ophthalmic evaluation. RESULTS: We identified three different TYR mutations in three patients (c.929dupC, R278X, and R52I), among which the latter two had been previously reported in other populations, but are reported here for the first time in a Korean context. In one patient we identified two different mutations of OCA2 [c.1784+1G>A and c.1842G>T (K614N)]. One patient was confirmed to have OCA4 by detecting two SLC45A2 mutations [c.469G>A (D157N) and c.686G>A (C229Y)]. OCA1A (66.7%) was the most common subtype in 21 Korean albinism patients, and 70% of patients were heterozygotes for 2 different mutational alleles. c.929dupC (54.8%) and R77Q (16.1%) were the most frequent mutational alleles of TYR in Koreans. CONCLUSIONS: Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with OCA, and we report the first Korean case of OCA2 with the OCA2 gene mutations.
Authors: J M Newton; O Cohen-Barak; N Hagiwara; J M Gardner; M T Davisson; R A King; M H Brilliant Journal: Am J Hum Genet Date: 2001-09-26 Impact factor: 11.025
Authors: Zhaohui Hu; Kai Wang; Morgan Bertsch; Taylor Dunn; Taylor Kehoe; Andrew D Kemerley; Megan Helms; Sajag Bhattarai; Wanda Pfeifer; Todd E Scheetz; Arlene V Drack Journal: Doc Ophthalmol Date: 2019-03-29 Impact factor: 2.379
Authors: Mohsin Shahzad; Sairah Yousaf; Yar M Waryah; Hadia Gul; Tasleem Kausar; Nabeela Tariq; Umair Mahmood; Muhammad Ali; Muzammil A Khan; Ali M Waryah; Rehan S Shaikh; Saima Riazuddin; Zubair M Ahmed Journal: Sci Rep Date: 2017-03-07 Impact factor: 4.379