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

Mol Vis. 2006 Oct 18:12:1211-6.


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 (theta=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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping*
  • Chromosomes, Human, X*
  • DNA Mutational Analysis
  • Female
  • Genes, Recessive
  • Genes, X-Linked*
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Nystagmus, Congenital / genetics*
  • Pedigree
  • RNA-Binding Proteins / genetics*


  • MBNL3 protein, human
  • RNA-Binding Proteins

Associated data

  • OMIM/160900
  • OMIM/602668