Publications by authors named "P Jayakar"
The heart employs a specialized ribosome in its muscle cells to translate genetic information into proteins, a fundamental adaptation with an elusive physiological role. Its significance is underscored by the discovery of neonatal patients suffering from often fatal heart failure caused by rare compound heterozygous variants in RPL3L, a muscle-specific ribosomal protein that replaces the ubiquitous RPL3 in cardiac ribosomes. -linked heart failure represents the only known human disease arising from mutations in tissue-specific ribosomes, yet the underlying pathogenetic mechanisms remain poorly understood despite an increasing number of reported cases.
View Article and Find Full Text PDFOculo-auriculo-vertebral spectrum (OAVS) is characterized by abnormal development of the 1st and 2nd branchial arches. Despite arguments against a monogenic condition, a few genes have been involved in a minority of cases. We now report heterozygous, presumably loss-of function variants in the CHAF1A gene in 8 individuals, including 3 members of the same family.
View Article and Find Full Text PDFIntroduction: Current literature lacks consensus on initial assessments and routine follow-up care of patients with alpha-mannosidosis (AM). A Delphi panel was conducted to generate and validate recommendations on best practices for initial assessment, routine follow-up care, and integrated care coordination of patients with AM.
Methods: A modified Delphi method involving 3 rounds of online surveys was used.
Article Synopsis
- Clinical genome sequencing (cGS) shows promise in diagnosing rare genetic diseases, especially in underserved populations, with a study examining its effectiveness across high-income and low- and middle-income countries.
- The iHope program assessed 1,004 individuals and found a 41.4% diagnostic yield, with those from low- and middle-income countries being 1.7 times more likely to receive positive results compared to high-income counterparts.
- Over 76% of individuals experienced changes in diagnostic evaluation, and around 41% had changes in management strategies, indicating increased access to genomic testing may help reduce healthcare disparities globally.
Article Synopsis
- Nine out of 19 genes that code for GABA receptor subunits are linked to disorders associated with seizures and developmental issues.
- The study identified three new de novo missense variants in the GABRA4 gene in patients with epilepsy and various neurodevelopmental problems, highlighting a connection between these genetic changes and neurological symptoms.
- Molecular dynamics simulations showed that the mutated GABRA4 subunits behave differently than the normal ones, supporting the role of this gene in causing a range of neurological conditions.