A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness
نویسندگان
چکیده
منابع مشابه
GNAT1 associated with autosomal recessive congenital stationary night blindness.
PURPOSE Congenital stationary night blindness is a nonprogressive retinal disorder manifesting as impaired night vision and is generally associated with other ocular symptoms, such as nystagmus, myopia, and strabismus. This study was conducted to further investigate the genetic basis of CSNB in a consanguineous Pakistani family. METHODS A consanguineous family with multiple individuals manife...
متن کاملWhole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder characterized by visual impairment under low light conditions. This disorder is due to a signal transmission defect from rod photoreceptors to adjacent bipolar cells in the retina. Two forms can be distinguished clinically, complete CSNB (cCSNB) or incomplete CSNB; the two forms are distinguished on the basis of th...
متن کاملA Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness
Congenital stationary night blindness (CSNB) is a non-progressive, clinically and genetically heterogeneous disease of impaired night vision. We report a naturally-occurring, stationary, autosomal recessive phenotype in beagle dogs with normal daylight vision but absent night vision. Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had "nega...
متن کاملThe autosomal recessive variety of congenital stationary night-blindness with myopia.
Congenital stationary night-blindness associated with myopia may be transmitted by two types of inheritance: X-linked recessive (Worth, 1906; Nettleship, 1909 and 1912; Kleiner, 1923) and autosomal recessive (Nettleship, 1912; Vogt, 1923; Gassler, 1925; Akiya, 1935; Merin et al, 1970). There are only a few reports of either variety. The present paper describes a family where 3 sibs are affected...
متن کاملA Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2010
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2010.08.013