Journal article

Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3

James Edward Self, Sarah Ennis, Andrew Collins, Fatima Shawkat, Christopher Mark Harris, David Anthony Mackey, Peter Robert Hodgkins, Isabelle Karen Temple, Xiaoli Chen, Andrew John Lotery

Molecular Vision | MOLECULAR VISION | Published : 2006


PURPOSE: To refine the interval for X-linked congenital idiopathic nystagmus at Xq24-q26.3 and to evaluate a novel candidate gene (Muscleblind-like 3 gene [MBNL3]). METHODS: A single pedigree with congenital idiopathic nystagmus (CIN) inherited as an X-linked recessive trait underwent detailed clinical examination including nystagmology and electrophysiological investigation in selected subjects. Following detailed phenotyping, genotyping was performed using 52 microsatellite markers spaced at an average of 5 cM along the X chromosome. Subsequent two-point and multipoint linkage analysis were performed and a candidate gene was screened for mutations by conventional sequencing. RESULTS: Linka..

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