Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3
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Self, JE and Ennis, S and Collins, A and Shawkat, F and Harris, CM and Mackey, DA and Hodgkins, PR and Temple, IK and Chen, XL and Lotery, AJ, Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3, Molecular Vision, 12, (136-38) pp. 1211-1216. ISSN 1090-0535 (2006) [Refereed Article]
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 (φ=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. ©2006 Molecular Vision.
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