A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus

Mol Vis. 2011 Mar 12:17:715-22.


Purpose: The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked congenital nystagmus and perform prenatal genetic diagnosis for their current pregnancy.

Methods: A common clinical examination and an ophthalmic evaluation were performed on the proband, one carrier, and one unaffected member. Mutation analysis of the G protein-coupled receptor 143 (GPR143) and four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing 7 (FRMD7) genes was performed by direct sequencing of PCR-amplified exons in the proband. The detected GPR143 mutation was tested in all available family members and 200 normal controls by direct sequencing.

Results: Congenital nystagmus, obvious fundus hypopigmentation, and foveal hypoplasia were observed in the proband but not in the carriers or the unaffected members. A novel splicing mutation c.658+1 g>t not found in 200 unrelated controls was identified and co-segregated with X-linked ocular albinism (XLOA) in this family. The fetus (V:5) was hemizygous for this mutant allele.

Conclusions: We identified a novel causative mutation of GPR143 in a five-generation Chinese family with XLOA. This expanded the mutation spectrum of GPR143 and provided data elucidating the diverse and variable effects of GPR143 mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Asian People / genetics*
  • Base Sequence
  • Child
  • China
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Family
  • Female
  • Fovea Centralis / abnormalities
  • Fovea Centralis / pathology
  • Fovea Centralis / physiopathology
  • Fundus Oculi
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / physiopathology
  • Heterozygote
  • Humans
  • Iris / pathology
  • Iris / physiopathology
  • Male
  • Membrane Glycoproteins / genetics*
  • Middle Aged
  • Molecular Sequence Data
  • Mutation / genetics*
  • Nystagmus, Congenital / complications
  • Nystagmus, Congenital / genetics*
  • Nystagmus, Congenital / physiopathology
  • Pedigree
  • Pigmentation / physiology
  • Pregnancy
  • RNA Splicing / genetics*
  • Visual Acuity / physiology
  • Young Adult


  • Eye Proteins
  • GPR143 protein, human
  • Membrane Glycoproteins