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Synergistic toxicity of compound heterozygous mutations in the COL4A3 gene causes end-stage renal disease in A large family of Alport syndrome.
Gene
February 2025
Department of Kidney Transplantation, Center of Organ Transplantation, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing 102218, China. Electronic address:
Alport syndrome (AS) is a genetic disorder characterized by kidney disease and hearing/vision abnormalities, resulting from mutations in the COL4A3, COL4A4, or COL4A5 genes. While numerous mutations have been identified in AS cases, the precise molecular mechanisms, particularly for compound mutations, remain under investigation. This study investigated the molecular mechanisms of AS in a proband with end-stage kidney disease (ESKD) using whole exome sequencing, which identified two compound heterozygous COL4A3 missense mutations: NM_000091.
View Article and Find Full Text PDF-related inherited thrombocytopenia: the genetic spectrum, underlying mechanisms, clinical phenotypes, diagnosis, and management approaches.
Res Pract Thromb Haemost
August 2024
Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Inherited thrombocytopenias have been considered exceedingly rare for a long time, but recent advances have facilitated diagnosis and greatly enabled the discovery of new causative genes. -related disease (RD) represents one of the most frequent forms of inherited thrombocytopenia, usually presenting with nonspecific clinical manifestations, which renders it difficult to establish an accurate diagnosis. RD is an autosomal dominant-inherited thrombocytopenia caused by deleterious variants in the gene encoding the heavy chain of nonmuscle myosin IIA.
View Article and Find Full Text PDFSpectrum of Alport syndrome in an Indian cohort.
Pediatr Nephrol
February 2025
Division of Nephrology, ICMR Center for Advanced Research in Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Background: Next-generation sequencing has enabled non-invasive diagnosis of type IV collagen disease in clinical settings other than the typical presentation of Alport syndrome (AS).
Methods: We reviewed the clinical and histological records of children diagnosed with Alport syndrome based on next-generation sequencing. Variants on clinical exome sequencing were categorized using ACMG 2015 criteria.
Genetic study of Alport syndrome in Tunisia.
Pediatr Nephrol
January 2025
Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis, Université de Tunis El Manar, LR99ES101007, Tunis, Tunisia.
Article Synopsis
- - Alport syndrome is a genetic disorder impacting the kidneys, ears, and eyes, caused by mutations in specific COL4A genes, with varying inheritance patterns including X-linked and autosomal recessive.
- - A study involving 45 patients from Tunisian families revealed 9 likely pathogenic variants, including 6 new ones, mostly in COL4A3 and COL4A5, and confirmed that many siblings tested positive for the condition.
- - The findings indicate that autosomal recessive inheritance may be more prevalent in Tunisia than previously thought, marking the first comprehensive screening of Alport syndrome mutations in the region.
Alport Syndrome.
Adv Kidney Dis Health
May 2024
Katz Family Division of Nephrology and Hypertension, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL; Peggy and Harold Katz Family Drug Discovery Center, University of Miami Miller School of Medicine, Miami, FL. Electronic address:
Article Synopsis
- Alport syndrome (AS) is a genetic disorder that leads to kidney failure, hearing loss, and eye issues due to faulty collagen production caused by mutations in COL4A3-5 genes.
- It encompasses a range of genetic inheritance patterns and is recognized as the "Alport spectrum disorder," making it the most common genetic cause of kidney disease.
- The severity and progression of AS can differ greatly based on factors like gender, inheritance type, and specific mutations, and the article will cover its epidemiology, diagnosis, prognosis, and treatment options.
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