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
Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3
Molecular Vision, 12, . (PMID:17102799).
Full text not available from this repository.
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.
||genetics, male, humans, methods, lod score, recessive, congenital, x chromosome, chromosome mapping, pedigree, nystagmus, research, mutation, genes, microsatellite repeats, human
|18 October 2006||Published|
||08 Sep 2008
||16 Apr 2017 17:33
|Further Information:||Google Scholar|
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