Advent of new sequencing technologies and modern diagnostic procedures has opened the door for a deeper understanding of disorders about which little was known previously. Discovery of novel genes, new genetic variants in previously known genes and better techniques of functional validation has immensely contributed to unraveling the molecular basis of genetic disorders. Availability of knockout animal models like the zebrafish and gene editing tools like CRISPR-Cas9 has elucidated the function of many new genes and helped us to better understand the functional consequences of various gene defects. This has also led to better diagnosis and therapeutic interventions. In this context, a good body of research work has been done on X-linked recessive disorders with ocular findings. This review will focus on ocular and genetic findings of these rare disorders. To our knowledge, this is the first comprehensive review encompassing ocular and genomic spectrum of X-linked recessive disorders.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426149 | PMC |
| http://dx.doi.org/10.4103/ijo.IJO_252_22 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).
Mol Biol Rep
January 2025
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square House, London, WC1N 3BG, UK.
Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
View Article and Find Full Text PDFDetection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage.
Clin Chem
January 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Background: Disease-causing copy-number variants (CNVs) often encompass contiguous genes and can be detected using chromosomal microarray analysis (CMA). Conversely, CNVs affecting single disease-causing genes have historically been challenging to detect due to their small sizes.
Methods: A custom comprehensive CMA (Baylor College of Medicine - BCM v11.
Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.
Sci Rep
January 2025
Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.
Congenital anterior segment anomalies are disorders that affect the development of the eye and cause severe visual impairment. The molecular basis of congenital anterior segment anomalies is not well known. In this study, genome sequencing was performed on 27 families from diverse ethnicities with congenital anterior segment anomalies and 11 variants were identified, most of which were novel and family specific.
View Article and Find Full Text PDFSerum Vitamin D in Children with Hemophilia A and Its Association with Joint Health and Quality of Life.
Hematol Rep
November 2024
Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef 62521, Egypt.
: Hemophilia A is an X-linked recessive illness produced by a deficiency of coagulation factor VIII. This study aimed to evaluate serum vitamin D in hemophilic pediatric patients and its correlation with joint health and quality of life. : This case-control study was performed on ninety children under the age of 18 years old and separated into two groups: study group of 45 children with hemophilia A and control group of 45 healthy children at an outpatient pediatric hematology clinic at the Beni-Suef University hospitals.
View Article and Find Full Text PDFTwo Cases of Menkes Disease With Similar Intracranial Arterial Tortuosity on Brain Magnetic Resonance Imaging.
Cureus
November 2024
Department of Radiology, Kyorin University, Faculty of Medicine, Tokyo, JPN.
Menkes disease is an X-linked recessive genetically inherited metabolic disease caused by an ATP7A gene abnormality that gives rise to impaired copper absorption. Copper deficiency causes symptoms such as characteristic abnormalities in the hair and vascular disorders. Brain MRI findings include a high-signal intensity in the temporal lobe white matter on T2-weighted images and delayed myelination.
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!