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Zenteno, Juan Carlos; Buentello‐Volante, Beatriz; Ayala‐Ramirez, Raul; Villanueva‐Mendoza, Cristina

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos

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  • Media type: E-Article
  • Title: Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos
  • Contributor: Zenteno, Juan Carlos; Buentello‐Volante, Beatriz; Ayala‐Ramirez, Raul; Villanueva‐Mendoza, Cristina
  • imprint: Wiley, 2011
  • Published in: American Journal of Medical Genetics Part A
  • Language: English
  • DOI: 10.1002/ajmg.a.33862
  • ISSN: 1552-4825; 1552-4833
  • Keywords: Genetics (clinical) ; Genetics
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:p>The association of retinitis pigmentosa (RP) 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 RP associated with nanophthalmos are described. Two affected sibs were ascertained from an endogamous population in Mexico. A genome‐wide linkage analysis was performed by means of an Affymetrix 250K microarray. Five large regions of homozygosity were demonstrated. The largest interval comprised 15.08 Mb at chromosome 1q31–32.1 and contained the Crumbs homologue‐1, <jats:italic>CRB1</jats:italic>, a gene responsible for a number of recessive retinal dystrophies. Nucleotide sequence analysis demonstrated a c.1125C&gt;G transversion in <jats:italic>CRB1</jats:italic> exon 5, predicting a novel p.Tyr375X variant. To our knowledge this is the first instance in which a <jats:italic>CRB1</jats:italic> mutation has been associated with early RP and nanophthalmos. Our results suggest a role for <jats:italic>CRB1</jats:italic> in promoting axial growth of the eye. Clinical analysis of additional subjects with retinal dystrophies due to <jats:italic>CRB1</jats:italic> 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). © 2011 Wiley‐Liss, Inc.</jats:p>