Publications by authors named "Germania Moreta"
Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose birth defects, genetic disorders, and infertility, among other complex phenotypes, in individuals across a wide range of ages. Hence, the present study wants to contribute to the knowledge of type and frequency of chromosomal alterations and polymorphisms in Ecuador.
Methods: Cytogenetic registers from different Ecuadorian provinces have been merged and analyzed to construct an open-access national registry of chromosome alterations and polymorphisms.
Alzheimer's disease (AD) is the most common neurodegenerative disease. It has two main pathological hallmarks: amyloid plaques and neurofibrillary tangles. The APOE 4 allele has been recognized as the strongest genetic risk factor for late-onset Alzheimer's disease (LOAD) in several populations worldwide, yet the risk varies by region and ethnicity.
View Article and Find Full Text PDFPurpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES).
Methods: After excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador, and Puerto Rico to screen for mutations in all known ARNSD genes.
Article Synopsis
- - The study investigates mutations in the POU3F4 gene, which are linked to X-linked deafness type 3 (DFN3) and associated inner ear abnormalities, using families from Turkey, Ecuador, and Nigeria.
- - The research identified four new mutations and one previously known mutation in the POU3F4 gene that correlate with deafness, suggesting these mutations interfere with important protein domains.
- - Findings highlight the importance of recognizing various POU3F4 mutations across different populations to enhance clinical understanding and support for affected individuals.