Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB)
نویسندگان
چکیده
منابع مشابه
Nystagmus characteristics in congenital stationary night blindness (CSNB).
AIM To analyse nystagmus characteristics in patients with congenital stationary night blindness (CSNB) for differentiation from other forms of early childhood nystagmus. METHODS Horizontal and vertical eye movements of 10 patients (6-46 years, mean 17.1 years, median 12.5 years) with CSNB (eight with CSNB1, two with CSNB2) were recorded with the scleral magnetic search coil technique or by el...
متن کاملGNAT1 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 کاملCongenital Stationary Night Blindness Panel
Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...
متن کاملTwo Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness
Mutations in NYX and CACNA1F gene are responsible for the X-linked congenital stationary night blindness (CSNB). In this study, we described the clinical characters of the two Chinese families with X-linked CSNB and detected two novel mutations of c. 371_377delGCTACCT and c.214A>C in the NYX gene by direct sequencing. These two mutations would expand the mutation spectrum of NYX. Our study woul...
متن کاملCongenital Stationary Night Blindness Panel
Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 1995
ISSN: 0340-6717,1432-1203
DOI: 10.1007/bf00225077