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Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.

Publication ,  Journal Article
Ratnamala, U; Lyle, R; Rawal, R; Singh, R; Vishnupriya, S; Himabindu, P; Rao, V; Aggarwal, S; Paluru, P; Bartoloni, L; Young, TL; Morris, MA ...
Published in: Invest Ophthalmol Vis Sci
August 29, 2011

PURPOSE: Myopia is a common vision problem affecting almost one third of the world's population. It can occur as an isolated genetic condition or be associated with other anomalies and/or syndromes. Seventeen myopia loci have been identified on various chromosomes; however, no specific gene mutations have yet been identified. METHODS: Two large multigeneration Asian Indian pedigrees (UR006 and UR077) with isolated, nonsyndromic myopia were studied, in which the condition appeared to segregate as an X-linked recessive trait (MYP1; MIM 310460). The degree of myopia was variable in both families, ranging from -6 to -23 D (mean, -8.48 D) with the majority >7.0 D. To map the myopia locus in these families, polymorphic microsatellite markers covering the entire X chromosome were used in linkage analyses performed on 42 genomic DNA samples (13 affected and 29 normal) from both families. RESULTS: Marker DXYS154, which is located within the pseudoautosomal region in distal Xq28 (PAR2; pseudoautosomal region 2), gave a combined maximum LOD score of 5.3 at = 0 under an autosomal recessive model. Other markers in the region (near but not within the PAR2 region) that showed no recombination with the phenotype in both the families included DXS1108, DXS8087, and F8i13. CONCLUSIONS: Observation of recombination in family UR006 refined the disease locus to a ∼1.25-Mb region flanked by the proximal marker DXS1073 and distal marker DXYS154. Mutation search in exons and splice junctions of candidate genes CTAG2, GAB3, MPP1, F8Bver, FUNDC2, VBP1, RAB39B, CLIC2, TMLHE, SYBL, IL9R, SPRY3, and CXYorf1 did not detect a pathogenic or predisposing variant.

Duke Scholars

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

August 29, 2011

Volume

52

Issue

9

Start / End Page

6814 / 6819

Location

United States

Related Subject Headings

  • Pedigree
  • Ophthalmology & Optometry
  • Myopia
  • Microsatellite Repeats
  • Male
  • Lod Score
  • India
  • Humans
  • Haplotypes
  • Genetic Linkage
 

Citation

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Ratnamala, U., Lyle, R., Rawal, R., Singh, R., Vishnupriya, S., Himabindu, P., … Radhakrishna, U. (2011). Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. Invest Ophthalmol Vis Sci, 52(9), 6814–6819. https://doi.org/10.1167/iovs.10-6815
Ratnamala, Uppala, Robert Lyle, Rakesh Rawal, Raminder Singh, Satti Vishnupriya, Pamini Himabindu, Vittal Rao, et al. “Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.Invest Ophthalmol Vis Sci 52, no. 9 (August 29, 2011): 6814–19. https://doi.org/10.1167/iovs.10-6815.
Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, et al. Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. Invest Ophthalmol Vis Sci. 2011 Aug 29;52(9):6814–9.
Ratnamala, Uppala, et al. “Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.Invest Ophthalmol Vis Sci, vol. 52, no. 9, Aug. 2011, pp. 6814–19. Pubmed, doi:10.1167/iovs.10-6815.
Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, Radhakrishna U. Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. Invest Ophthalmol Vis Sci. 2011 Aug 29;52(9):6814–6819.

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

August 29, 2011

Volume

52

Issue

9

Start / End Page

6814 / 6819

Location

United States

Related Subject Headings

  • Pedigree
  • Ophthalmology & Optometry
  • Myopia
  • Microsatellite Repeats
  • Male
  • Lod Score
  • India
  • Humans
  • Haplotypes
  • Genetic Linkage