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Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Am J Hum Genet
January 2025
Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address:
The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders and frequently show combined oxidative phosphorylation deficiency.
View Article and Find Full Text PDFPerrault syndrome: a forgotten presentation for infertile women.
Clin Case Rep
November 2024
Department of Obstetrics and Gynecology, King Fahad Medical City Riyadh Second Health Cluster Riyadh Saudi Arabia.
Article Synopsis
- Perrault syndrome (PRLTS) is a rare genetic disorder characterized by ovarian failure in women and progressive sensorineural hearing loss.
- A case study involves a 22-year-old Saudi woman who has dealt with hearing loss since childhood and amenorrhea since age 18, but initial hormone tests didn't reveal any imbalances.
- The case emphasizes the need for comprehensive assessments and treatment plans involving various specialties to manage the patient's hearing and fertility issues effectively.
and variants are the underlying cause of Perrault-like syndrome and cardiac anomalies in a patient.
Clin Case Rep
November 2024
Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine Cincinnati Ohio USA.
Recent studies have established an association between variants and Perrault syndrome. In this case report, we present a female patient with Perrault syndrome and cardiomyopathy, resulting from variants in and , respectively.
View Article and Find Full Text PDFThe Perrault Syndrome Mystery: A Case Report on Its Diagnosis in a 26-Year-Old Female.
Cureus
October 2024
Department of General Medicine and Surgery, Batterjee Medical College for Science and Technology, Jeddah, SAU.
Article Synopsis
- - Perrault syndrome (PRLTS) is a rare genetic disorder leading to hearing loss in both men and women, and ovarian dysfunction specifically in females with a 46, XX karyotype.
- - A 26-year-old woman with symptoms like congenital deafness, ovarian failure, and high FSH levels was misdiagnosed multiple times before genetic testing confirmed her condition as PRLTS.
- - This case highlights the need for genetic testing and a multidisciplinary approach for better diagnosis and management of PRLTS, which poses significant diagnostic challenges due to its rarity.
Biallelic variants in cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
medRxiv
October 2024
Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.
Combined oxidative phosphorylation deficiency (COXPD) is a rare multisystem disorder which is clinically and genetically heterogeneous. Genome sequencing identified biallelic variants in individuals from five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy. Complexome profiling of fibroblasts from affected individuals revealed reduced levels of the small and, a more pronounced reduction of, the large mitochondrial ribosomal subunits.
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