Background: Next-generation sequencing has been proven to be a reliable method for the detection of genetic causes in heterogeneous ocular disorders. In this report an NGS-based diagnostic approach was taken to uncover the genetic etiology in a patient with coloboma and microphthalmia, a highly heterogeneous disease with intrafamilial phenotypic variability.
Materials And Methods: Next generation sequencing using a targeted panel of 316 genes, was carried out in the proband. Prioritized variants were then identified and confirmed using Sanger sequencing. Prenatal diagnosis of the detected variant was then performed in the family.
Results: A novel de novo frameshift variant c.157_164delTTCACTCG (p.Phe53fs) in , leading to a truncated protein, was identified. Prenatal diagnosis identified the same variant in the fetus.
Conclusions: This report demonstrates the importance of genetic counseling and underscores the efficiency and effectiveness of targeted NGS as a means of detecting variants in inherited eye disorders.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/13816810.2021.2002915 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Prenatal Diagnosis of Congenital Heart Disease in Liveborn Infants in the New England Region.
Pediatr Cardiol
January 2025
Division of Pediatric Cardiology, Department of Pediatrics, Hasbro Children's Hospital, The Warren Alpert Medical School at Brown University, Providence, RI, USA.
Prenatal diagnosis of congenital heart disease requiring early cardiac catheterization or surgical intervention enables optimal delivery planning for appropriate postnatal cardiovascular intervention and care. This allows for improved morbidity and mortality. Prior national data reported prenatal diagnosis rates of 32% for congenital heart disease requiring intervention in infants in the first 6 months of life in the New England region.
View Article and Find Full Text PDFAssociations Between Prenatal Dioxin-like Polychlorinated Biphenyls Exposure and Glucocorticoid and Androgenic Hormones in Umbilical Cord Blood.
Environ Res
January 2025
Department of Laboratory Medicine, The First Affiliated Hospital of Zhengzhou University. Zhengzhou, Henan, China. Electronic address:
This study investigates the association between prenatal exposure to dioxin-like polychlorinated biphenyls (DL-PCBs) and glucocorticoid and androgenic hormone levels in cord blood. We analyzed cord blood samples from 500 mother-infant pairs from China (2022-2023), focusing on hormones including cortisol, cortisone, dehydroepiandrosterone (DHEA), and androstenedione. The main analysis revealed significant reductions in cortisol levels with increased exposure to PCB-77 (β = -3.
View Article and Find Full Text PDFImportance of Cerebral-Placental Ratio in the Prenatal Diagnosis, Management, and Postnatal Outcome of a Fetus with Giant Cardiac Rhabdomyoma.
Klin Padiatr
January 2025
Pediatric Cardiology, Istanbul Medipol University, Istanbul, Turkey.
Identification of serum small non-coding RNA as biomarkers for endometrial receptivity.
Genomics
January 2025
Reproductive Medicine Center, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, China; Hubei Clinical Research Center for Prenatal Diagnosis and Birth Health, Wuhan, Hubei 430071, China. Electronic address:
Background: Current endometrial receptivity analysis is invasive, preventing embryo transfer during the biopsy cycle. This study aims to screen serum sncRNAs as non-invasive biomarkers for ERA tests.
Methods: The study included 12 infertile patients undergoing IVF-ET and ERA, whose serum samples were collected for high-energy sequencing technology to detect sncRNA expression profiles.
Evaluation and Management of Congenital Cytomegalovirus Infection.
Obstet Gynecol
January 2025
Medical Practice Evaluation Center, the Division of Infectious Disease, and the Division of Maternal Fetal Medicine, Massachusetts General Hospital, Boston, Massachusetts; the Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, Quebec, Canada; and the Department of Obstetrics and Gynecology, Weill Cornell Medicine, New York, New York.
The purpose of this review is to serve as an update on congenital cytomegalovirus (CMV) evaluation and management for obstetrician-gynecologists and to provide a framework for counseling birthing people at risk for or diagnosed with a primary CMV infection or reactivation or reinfection during pregnancy. A DNA virus, CMV is the most common congenital viral infection and the most common cause of nongenetic childhood hearing loss in the United States. The risk of congenital CMV infection from transplacental viral transfer depends on the gestational age at the time of maternal infection and whether the infection is primary or nonprimary.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!