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. 2008 May 30:14:1015-9.

Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus

Pingtong Zhou  1 , Zhiqiang Wang, Jing Zhang, Landian Hu, Xiangyin Kong
Affiliations

Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus

Pingtong Zhou et al. Mol Vis. .

Abstract

Purpose: To map and identify the genetic mutation underlying X-linked congenital nystagmus in a Chinese family.

Methods: Genomic DNA was prepared from peripheral blood, and linkage analysis was performed using short tandem repeat (STR) polymorphism markers. We used Cyrillic software to manage pedigree and haplotype data and used MLINK to calculate LOD scores. Dye-terminator cycle-sequencing was used to detect the sequence variation of polymerase chain reaction (PCR)-amplified exons.

Results: Linkage analysis mapped the disease-causing gene to Xp22.3 with a significant two-point LOD score (Z) at marker DXS7103 (Z=3.16, recombination fraction [theta]=0). Haplotype analysis in this region supported the result. In analyzing the candidate gene in the linked region, we found a 37-bp deletion in exon 1 of GPR143 in all male patients.

Conclusions: The revealed 37-bp deletion in GPR143 is frameshift and is predicted to result in a truncated protein of 93 residues. These results indicate that this novel GPR143 mutation is associated with the congenital nystagmus observed in this Chinese family.

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Figures

Figure 1
Figure 1
The pedigree and haplotype analysis of the Chinese congenital nystagmus subject family. The proband is marked with an arrow. Eight markers are listed from top to bottom: telomere - DXS6807 - DXS7103 - DXS9902 - DXS9896 - GATA186D06 - DXS8015 - DXS6810 - DXS8035 - centromere. Blackened regions of haplotypes indicate linkage between the markers and the disease. Question marks indicate that the genotype is not determined.
Figure 2
Figure 2
Deletion in GPR143 identified in subject family with congenital nystagmus. A: Sequence for a normal family member (III: 8 in F re 1), showing the wild type allele. B: Sequence for the proband (III: 22), showing the 37 bp deletion from position 222 to position 258 in exon 1. C: The mutant transcript has a premature termination codon (PTC) located before the normal termination codon (Ter) and is likely to be degraded under the nonsense-mediated mRNA decay (NMD) mechanism.
See this image and copyright information in PMC

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