April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Genome-wide Homozygosity Mapping With SNP Microarrays Identifies The Crumbs Homologue 1 (CRB1) Gene As Responsible For A Recessive Syndrome Of Retinitis Pigmentosa And Nanophthalmos
Author Affiliations & Notes
  • Raul Ayala Ramirez
    Department of Genetics-Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico, Mexico
  • Beatriz Buentello-Volante
    Department of Genetics-Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico, Mexico
  • Cristina Villanueva-Mendoza
    Department of Genetics, Asociación Para Evitar la Ceguera en México, Mexico, Mexico
  • Juan Carlos Zenteno
    Department of Genetics-Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico, Mexico
  • Footnotes
    Commercial Relationships  Raul Ayala Ramirez, None; Beatriz Buentello-Volante, None; Cristina Villanueva-Mendoza, None; Juan Carlos Zenteno, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 2373. doi:
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      Raul Ayala Ramirez, Beatriz Buentello-Volante, Cristina Villanueva-Mendoza, Juan Carlos Zenteno; Genome-wide Homozygosity Mapping With SNP Microarrays Identifies The Crumbs Homologue 1 (CRB1) Gene As Responsible For A Recessive Syndrome Of Retinitis Pigmentosa And Nanophthalmos. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2373.

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Abstract

Purpose: : The clinical association of retinitis pigmentosa and microphthalmia has been reported in a number of familial and isolated cases. Here, the results of genetic analysis in a familial case of early retinitis pigmentosa associated with nanophthalmos are described.

Methods: : Two affected sibs were ascertained from an endogamous population in Mexico. A genome wide linkage analysis was performed on DNA from both sibs by means of an Affymetrix 250K single-nucleotide polymorphism microarray. Significant homozygous regions shared by the affected patients were identified using the HomozygosityMapper software, and candidate genes were searched by GeneDistiller software.

Results: : Five large regions of homozygosity were demonstrated. The largest interval comprised 15.08 MB at chromosome 1q31-q32.1 and contained the Crumbs homologue-1, CRB1, a gene responsible for a number of recessive retinal dystrophies. Nucleotide sequence analysis demonstrated a c.1125C>G transversion in CRB1 exon 5, predicting a novel p.Tyr375X nonsense mutation at the protein level.

Conclusions: : To our knowledge this is the first instance in which a CRB1 mutation results in the clinical association of early retinitis pigmentosa and nanophthalmos. Our results suggest a role for CRB1 in promoting eye axial growth. Detailed clinical analysis of additional subjects with retinal dystrophies due to CRB1 mutations will help to identify if the high hyperopia, a frequently observed trait in these subjects, could be related to decreased eye axial length (nanophthalmos).

Keywords: gene microarray • gene mapping • degenerations/dystrophies 
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