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

2011; Wiley; Volume: 155; Issue: 5 Linguagem: Inglês

10.1002/ajmg.a.33862

1552-4833

Juan Carlos Zenteno, Beatríz Buentello-Volante, Raúl Ayala-Ramírez, Cristina Villanueva‐Mendoza,

Corneal Surgery and Treatments

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, 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 variant. To our knowledge this is the first instance in which a CRB1 mutation has been associated with early RP and nanophthalmos. Our results suggest a role for CRB1 in promoting axial growth of the eye. 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).