A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews
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چکیده
منابع مشابه
The photopic electroretinogram in congenital stationary night blindness with myopia.
Previous studies have reported that subjects affected with congenital stationary night blindness and myopia demonstrated some photopic (cone) abnormalities in their electroretinogram (ERG). By comparing the photopic ERG elicited with a threshold and a suprathreshold stimulus it was found that, at threshold, no significant differences were noted both in the peak time and in the amplitude of ERGs...
متن کاملThe Photopic Eledroreiinogram in Congenital Stationary Night Blindness with Myopia
Previous studies have reported that subjects affected with congenital stationary night blindness and myopia demonstrated some photopic (cone) abnormalities in their electroretinogram (ERG). By comparing the photopic ERG elicited with a threshold and a suprathreshold stimulus it was found that, at threshold, no significant differences were noted both in the peak time and in the amplitude of ERGs...
متن کاملTRPM1 mutations are associated with the complete form of congenital stationary night blindness
PURPOSE To identify human transient receptor potential cation channel, subfamily M, member 1 (TRPM1) gene mutations in patients with congenital stationary night blindness (CSNB). METHODS We analyzed four different Japanese patients with complete CSNB in whom previous molecular examination revealed no mutation in either nyctalopin (NYX) or glutamate receptor, metabotropic 6 (GRM6). The ophthal...
متن کاملCongenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect.
PURPOSE To clone and characterize the canine RPE65 cDNA from normal dog, examine for mutations, and establish if the mutation identified in Swedish briard dogs with retinal dystrophy is present in dogs of the same breed that originated from the United States and other countries, and are affected with congenital stationary night blindness. METHODS Fifteen briard dogs were studied, of which 10 ...
متن کاملMutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
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 ...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2019
ISSN: 2054-345X
DOI: 10.1038/s41439-019-0076-4