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

Self, James Edward, Ennis, Sarah, Collins, Andrew, Shawkat, Fatima, Harris, Christopher Mark, Mackey, David Anthony, Hodgkins, Peter Robert, Temple, Isabelle Karen, Chen, Xiaoli and Lotery, Andrew John (2006) Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3 Molecular Vision, 12, pp. 1211-1216. (PMID:17102799).


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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: Linkage mapping located the disease gene to a 15.5cM interval at Xq24-q26.3, between markers DXS1212 and DXS1062 with a maximum two-point LOD score of 4.24 with both markers DXS8044 and DXS994 (?=0). Multipoint analysis indicated a LOD score of 4.54 and a critical gene interval of 8.0 cM. No mutations were found in the MBNL3 gene in this pedigree.

Conclusions: We describe a family with an unusual inheritance pattern most consistent with X-linked recessive inheritance with X inactivation causing manifesting females. We refine the linkage interval for X-linked recessive congenital idiopathic nystagmus and exclude MBNL3 as the causative gene in this family.

Item Type: Article
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Keywords: genetics, male, humans, methods, lod score, recessive, congenital, x chromosome, chromosome mapping, pedigree, nystagmus, research, mutation, genes, microsatellite repeats, human
ePrint ID: 60217
Date :
Date Event
18 October 2006Published
Date Deposited: 08 Sep 2008
Last Modified: 16 Apr 2017 17:33
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