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Estrada H.,Instituto Nacional Of Perinatologia | Buentello B.,Institute Of Ophthalmology Conde Of Valenciana | Zenteno J.C.,National Autonomous University of Mexico | Fiszman R.,Instituto Nacional Of Perinatologia | Aguinaga M.,Instituto Nacional Of Perinatologia
Prenatal Diagnosis | Year: 2013

Objective: The aim of this study is to analyze NLRP7 mutation frequency in 20 Mexican patients with recurrent hydatidiform moles (RHMs). Patients: Twenty patients with RHMs, 50 couples with recurrent pregnancy loss (RPL), and 100 controls were included in the study. Molecular analysis of the NLRP7 coding region was performed in patients with RHMs. Restriction enzyme digestion analysis and direct sequencing of the identified mutations were performed in controls and patients with RPL. Results: Patients displayed between two and six moles, and 10 of them presented other forms of pregnancy loss. Twelve (60%) patients were homozygous for the missense mutation c.2248C>G (p.L750V), five (25%) patients were heterozygous for the p.L750V mutation and the c.1018G>A (p.E340K) variant, and three (15%) patients were heterozygous for the c.1018G>A (p.E340K) variant. Five (5%) control women and four women and one man (5%) with RPL were heterozygous for the p.L750V mutation and two (2%) patients with RPL were heterozygous for the p.E340K variant. Conclusions: A total of 60% of our RHM patients presented homozygous p.L750V mutations, 25% were compound heterozygotes for p.L750V mutation and the p.E340K variant, and 15% were heterozygous for p.E340K variant. Heterozygous p.L750V mutations were frequently observed in our population. Homozygous mutations were also present in patients with RHMs. Additional studies are needed to understand the role of the p.E340K variant in RHMs and RPL. © 2013 John Wiley & Sons, Ltd. Source


Espinosa-Mattar Z.,Institute Of Ophthalmology Conde Of Valenciana
Ophthalmic surgery, lasers & imaging : the official journal of the International Society for Imaging in the Eye | Year: 2012

A 39-year-old woman with a history of high myopia underwent uneventful implantation of phakic posterior chamber implantable collamer lenses (ICLs) 6 years earlier in both eyes with a visual acuity of 20/20 bilaterally. The patient presented as an emergency with sudden decreased vision in her right eye after blunt trauma. Slit-lamp examination showed a partially dislocated ICL in the anterior chamber, associated with ocular hypertension. It was decided to treat her with topical ocular hypotensive agents and surgical repositioning of the ICL. There was a progressive loss of endothelial cells and decreased visual acuity. Descemet stripping automated endothelial keratoplasty was needed to correct the endothelial failure. This case presents a potential complication of the ICL several years after implantation, and should be considered in these types of procedures. Copyright 2012, SLACK Incorporated. Source


Chacon-Camacho O.F.,Institute Of Ophthalmology Conde Of Valenciana | Vazquez J.,Hospital de Especialidades Pediatricas | Zenteno J.C.,Institute Of Ophthalmology Conde Of Valenciana | Zenteno J.C.,National Autonomous University of Mexico
American Journal of Medical Genetics, Part A | Year: 2011

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, hypertrichosis, intellectual disability, and absence and/or hypoplasia of the nails or terminal phalanges of the hands and feet. The syndromic features of ZLS are highly variable and can overlap with other entities featuring gingival fibrosis. This study describes a patient with ZLS with novel findings, including colpocephaly, hemivertebra, polydactyly, hyperpigmentation, and hemihyperplasia. Thus, the present report expands the phenotypic spectrum of this uncommon syndrome. © 2011 Wiley-Liss, Inc. Source


Zenteno J.C.,National Autonomous University of Mexico | Zenteno J.C.,Institute Of Ophthalmology Conde Of Valenciana | Buentello-Volante B.,Institute Of Ophthalmology Conde Of Valenciana | Ayala-Ramirez R.,Institute Of Ophthalmology Conde Of Valenciana | Villanueva-Mendoza C.,Hospital Dr. Luis Sanchez Bulnes
American Journal of Medical Genetics, Part A | Year: 2011

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 15.08Mb 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). © 2011 Wiley-Liss, Inc. Source


Pelcastre E.L.,Institute Of Ophthalmology Conde Of Valenciana | Villanueva-Mendoza C.,Asociacion Para Evitar la Ceguera en Mexico | Zenteno J.C.,Institute Of Ophthalmology Conde Of Valenciana | Zenteno J.C.,National Autonomous University of Mexico
Clinical and Experimental Ophthalmology | Year: 2010

Purpose: To present the results of molecular analysis of the NDP gene in Mexican families with Norrie disease (ND) and X-linked familial exudative vitreoretinopathy (XL-FEVR). Methods: Two unrelated families with ND and two with XL-FEVR were studied. Clinical diagnosis was suspected on the basis of a complete ophthalmologic examination. Molecular methods included DNA isolation from peripheral blood leucocytes, polymerase chain reaction amplification and direct nucleotide sequencing analysis of the complete coding region and exon-intron junctions of NDP. Haplotype analysis using NDP-linked microsatellites markers was performed in both ND families. Results: A novel Norrin missense mutation, p.Arg41Thr, was identified in two apparently unrelated families with ND. Haplotype analysis demonstrated that affected males in these two families shared the same ND-linked haplotype, suggesting a common origin for this novel mutation. The previously reported p.Arg121Trp and p.Arg121Gln Norrin mutations were identified in the two families with XL-FEVR. Conclusion: Our results expand the mutational spectrum in ND. This is the first report of ND resulting from mutation at arginine position 41 of Norrin. Interestingly, mutations at the same residue but resulting in a different missense change were previously described in subjects with XL-FEVR (p.Arg41Lys) or persistent fetal vasculature syndrome (p.Arg41Ser), indicating that the novel p.Arg41Thr change causes a more severe retinal phenotype. Preliminary data suggest a founder effect for the ND p.Arg41Thr mutation in these two Mexican families. © 2010 The Authors. Journal compilation © 2010 Royal Australian and New Zealand College of Ophthalmologists. Source

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