How to Cite this Article: Zenteno JC, Buentello-Volante B, Ayala-Ramirez R, Villanueva-Mendoza C. 2011. Homozygosity mapping identifies the crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos. Am J Med Genet Part A 155:1001–1006.
Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos†
Version of Record online: 11 APR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 5, pages 1001–1006, May 2011
How to Cite
Zenteno, J. C., Buentello-Volante, B., Ayala-Ramirez, R. and Villanueva-Mendoza, C. (2011), Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos. Am. J. Med. Genet., 155: 1001–1006. doi: 10.1002/ajmg.a.33862
- Issue online: 19 APR 2011
- Version of Record online: 11 APR 2011
- Manuscript Accepted: 22 NOV 2010
- Manuscript Received: 4 AUG 2010
- CONACYT. Grant Number: 071110
Additional supporting information may be found in the online version of this article.
|ajmg_33862_sm_SuppFig1.tif||828K||Fig. 1: Retinal appearance in retinitis pigmentosa-nanophthalmos. Fundus eye photograph (composite images) of patient 1 showing conspicuous clumping of pigment resulting in generalized nummular pigmented lesions. (A), right eye; (B), left eye.|
|ajmg_33862_sm_SuppFig2.tif||145K||Fig. 2: CRB1 gene mutation in familial retinitis pigmentosa-nanophthalmos. A: Partial nucleotidic sequence of CRB1 exon 5 in DNA from patient 1 showing a homozygous c.1125C>G variant, which predicts p.Tyr375X. Compare this electropherogram with the normal sequence shown in B. Sequence analysis in DNA from patient 2 showed an identical mutation (not shown). C,D: Partial DNA sequence of CRB1 exon 5 shows heterozygosity for the c.1125C>G mutation in DNAs from patients' mother (C) and father (D). The arrow points to the mutated nucleotide.|
|ajmg_33862_sm_SuppTab1.doc||51K||Table I: Oligonucleotide primer pairs for the amplification of the CRB1 gene.|
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