Publications by authors named "M Gomez-Cano"
Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation.
View Article and Find Full Text PDFGenetic defects affecting steroid biosynthesis cause cortisol deficiency and differences of sex development; among these defects are recessive mutations in the steroidogenic enzymes CYP11A1 and CYP11B, whose function is supported by reducing equivalents donated by ferredoxin reductase (FDXR) and ferredoxin. So far, mutations in the mitochondrial flavoprotein FDXR have been associated with a progressive neuropathic mitochondriopathy named FDXR-related mitochondriopathy (FRM), but cortisol insufficiency has not been documented. However, patients with FRM often experience worsening or demise following stress associated with infections.
View Article and Find Full Text PDFArticle Synopsis
- High myopia is a severe type of myopia with refractive errors over -6.00 SDs or an eye axial length greater than 26 mm, particularly affecting children under 10 years old.
- The article examines genetic factors in early-onset high myopia by analyzing 21 families and suggesting candidate genes based on whole-exome sequencing results.
- Findings indicate that most families had genetic alterations across several proposed genes, highlighting a potential polygenic inheritance pattern, but further research is needed to confirm these genetic impacts on the condition.
Article Synopsis
- * The study conducted at the University Hospital La Paz analyzed the genetic basis of keratoconus in 24 pediatric families using whole-exome sequencing, finding an oligogenic inheritance pattern.
- * Identified candidate genes are linked to various corneal functions and repair processes, indicating potential therapeutic targets, but further research is needed to validate their role in pediatric keratoconus.
Article Synopsis
- * A study involving whole exome sequencing (WES) of 20 Spanish families revealed a genetic diagnosis in 10% and identified potential cataract-causing genes in 35% of the patients.
- * Most variants discovered were of uncertain significance, indicating that further research is necessary, while some specific genes and loci were proposed as candidates for future study.