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

T L Young, S M Ronan, A B Alvear, S C Wildenberg, W S Oetting, L D Atwood, D J Wilkin, R A King, T L Young, S M Ronan, A B Alvear, S C Wildenberg, W S Oetting, L D Atwood, D J Wilkin, R A King

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.

References

    1. Arch Ophthalmol. 1983 Mar;101(3):405-7
    1. Am J Hum Genet. 1998 Jul;63(1):109-19
    1. J Biol Chem. 1989 Apr 25;264(12):6898-905
    1. J Histochem Cytochem. 1990 Nov;38(11):1549-63
    1. Clin Genet. 1990 Oct;38(4):281-6
    1. Nat Genet. 1994 Jun;7(2 Spec No):246-339
    1. Matrix Biol. 1994 Apr;14(3):227-32
    1. Nucleic Acids Res. 1994 Sep;22(17):3462-9
    1. Genomics. 1995 Jun 10;27(3):481-8
    1. Exp Eye Res. 1993 Jun;56(6):635-48
    1. Nature. 1996 Mar 14;380(6570):152-4
    1. Am J Hum Genet. 1996 Jun;58(6):1347-63
    1. Genomics. 1996 Dec 15;38(3):399-404
    1. Genome Res. 1997 May;7(5):422-33
    1. Invest Ophthalmol Vis Sci. 1997 Aug;38(9):1740-51
    1. Nucleic Acids Res. 1998 Jan 1;26(1):220-5
    1. Proc Natl Acad Sci U S A. 1987 Apr;84(8):2363-7

Source: PubMed

Patrocinadores e Colaboradores

Condições médicas

Intervenções de drogas

3
Se inscrever