International journal of molecular medicine · 2012
Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Wang Qin, Gao Yang, Li Shiqiang, Guo Xiangming, Zhang Qingjiong
Аннотация
The aim of this study was to identify mutations in the TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness (CSNB). Twenty-four unrelated patients with CSNB were ascertained. Sanger sequencing was used to analyze the coding exons and adjacent intronic regions of TRPM1, GRM6, NYX and CACNA1F. Six mutations were identified in six unrelated patients, including five novel and one known. Of the six, three novel hemizygous mutations, c.92G>A (p.Cys31Tyr), c.149G>C (p.Ary50Pro), and c.[272T>A;1429G>C] (p.[Leu91Gln;Gly477Arg]), were found in NYX in three patients, respectively. A novel c.[1984_1986delCTC;3001G>A] (p.[Leu662del;Gly1001Arg]) mutation was detected in CACNA1F in one patient. One novel and one known heterozygous variation, c.1267T>C (p.Cys423Arg) and c.1537G>A (p.Val513Met), were detected in GRM6 in two patients, respectively. No variations were found in TRPM1. The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of CSNB.