Publications by authors named "J F Tellez Zenteno"
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.
View Article and Find Full Text PDFMultimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.
Int Ophthalmol
December 2024
Purpose: Description of retinal phenotype by structural and functional testing, ornithine plasma levels and mutational data of OAT gene in patients with Gyrate Atrophy (GA).
Methods: Ophthalmologic examination, fundus photography (CFP), autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), Goldmann perimetry (GP), full-field electroretinogram (ffERG) and chromatic perimetry (CP) testing were performed. Ornithine plasma levels were measured.
Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data-Based Read-Depth Approach.
Mol Genet Genomic Med
October 2024
Article Synopsis
- Retinal dystrophies (RDs) are a leading cause of inherited blindness, linked to genetic defects in around 300 genes, and targeted next-generation sequencing (NGS) struggles to detect copy number variations (CNVs) vital for accurate diagnosis.
- * In a study of 30 unrelated Mexican RD patients with inconclusive results from exome sequencing (ES), CNV detection was performed using ExomeDepth software and verified through quantitative PCR assays.
- * Pathogenic CNVs were identified in 20% of cases, leading to definitive molecular diagnoses in 5 patients, emphasizing the importance of integrating bioinformatic CNV detection in RD diagnostics after ES.*
A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant.
Am J Med Genet A
January 2025
Article Synopsis
- Doyne honeycomb retinal dystrophy (DHRD) is a dominantly inherited eye disease that leads to the buildup of material under the retina, affecting vision over time.
- It is primarily caused by a specific genetic mutation in the EFEMP1 gene, with the common variant being p.Arg345Trp.
- This text also discusses a unique case in a family where a different EFEMP1 variant causes both juvenile glaucoma and DHRD, widening our understanding of the genetic causes of these eye conditions.
Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.
Mol Genet Genomics
August 2024
The purpose of this study was to analyze and molecularly describe the largest group of patients with ABCA4-associated retinal degeneration in Latin America. Pathogenic variants in ABCA4, a member of the ATP Binding Cassette (ABC) transporters superfamily, is one of the most common causes of inherited visual deficiency in humans. Retinal phenotypes associated with genetic defects in ABCA4 are collectively known as ABCA4-associated retinal degenerations (ABCA4R), a group of recessively inherited disorders associated with a high allelic heterogeneity.
View Article and Find Full Text PDF