A second locus for familial high myopia maps to chromosome 12q

Am J Hum Genet. 1998 Nov;63(5):1419-24. doi: 10.1086/302111.

Abstract

Myopia, or nearsightedness, is the most common eye disorder worldwide. "Pathologic" high myopia, or myopia of <=-6.00 diopters, predisposes individuals to retinal detachment, macular degeneration, cataract, or glaucoma. A locus for autosomal dominant pathologic high myopia has been mapped to 18p11.31. We now report significant linkage of high myopia to a second locus at the 12q21-23 region in a large German/Italian family. The family had no clinical evidence of connective-tissue abnormalities or glaucoma. The average age at diagnosis of myopia was 5.9 years. The average spherical-component refractive error for the affected individuals was -9.47 diopters. Markers flanking or intragenic to the genes for the 18p locus, Stickler syndromes type I and II (12q13.1-q13.3 and 6p21.3), Marfan syndrome (15q21.1), and juvenile glaucoma (chromosome 1q21-q31) showed no linkage to the myopia in this family. The maximum LOD score with two-point linkage analysis in this pedigree was 3.85 at a recombination fraction of .0010, for markers D12S1706 and D12S327. Recombination events identified markers D12S1684 and D12S1605 as flanking markers that define a 30.1-cM interval on chromosome 12q21-23, for the second myopia gene. These results confirm genetic heterogeneity of myopia. The identification of this gene may provide insight into the pathophysiology of myopia and eye development.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 12*
  • Female
  • Genetic Markers
  • Germany / ethnology
  • Glaucoma / genetics
  • Humans
  • Introns
  • Italy / ethnology
  • Male
  • Marfan Syndrome / genetics
  • Middle Aged
  • Myopia / genetics*
  • Myopia / pathology
  • Myopia / physiopathology
  • Pedigree
  • Recombination, Genetic
  • United States

Substances

  • Genetic Markers