FAST kinase domain-containing protein 5 (FASTKD5) is a mitochondrial protein that is needed for processing mRNA in the primary mitochondrial transcript. Several mutations have been found in other proteins involved in mitochondrial metabolism, but mutations in the FASTKD5 gene have not yet been reported.
The Mediator complex is a system that regulates protein-coding gene transcription, where mediator of RNA polymerase II transcription subunit 16 (MED16) is a subunit belonging to this system. Pathogenic genetic variants in Mediator complex subunits usually lead to neurodevelopmental and neurodegenerative diseases with a variety of clinical symptoms, usually designated as MEDopathies.
A variant burden analysis for bipolar disorder was performed using gene-based aggregation of loss-of-function variants in whole-genome sequencing data from Iceland and the UK Biobank; the association between bipolar disorder and the burden of loss-of-function variants was tested in 13,786 genes.
Focal segmental glomerulosclerosis (FSGS) is a kidney disease that leads to renal failure, and it affects individuals from different ancestries, the highest prevalence being among African and African American populations. DNA samples from 726 patients with FSGS were obtained and DNA sequencing was performed in the search of mutations tied to FSGS compared to a large pool of control populations.
Branchio-Oto-Renal syndrome 1 (BOR1) is caused by pathogenic variants in the EYA1 gene, and the gene behind the pathogenesis of BOR2 is SIX5. Growing evidence exists regarding GATA and PAX-SIX-EYA-DACH transcriptional networks playing a key role in normal development. A case report of a patient harboring a new variant in the DACH1 gene was recently presented.
Mosaic variegated aneuploidy syndrome (MVAS) is an autosomal recessive disorder characterized by mosaic aneuploidy. Its clinical manifestations include growth and developmental delay, congenital malformations and increased cancer risk. Genetic variants involved in MVAS affect the chromosomal segregation during mitosis, where individuals often show mosaicism and chromosomal instability.
Neurodevelopmental disorders related to protein phosphatase 2A (PP2A) have been recently renamed as Houge-Janssens syndrome and they are caused by heterozygous, de novo pathogenic genetic variants in the PPP2R5D, PPP2R1A or PPP2CA genes. The syndrome is characterized by features such as intellectual disability, autism, developmental delay, seizures or brain abnormalities, among others.
Researchers from Guangzhou Medical University and affiliated organizations presented data from a study that aimed to investigate the disease-causing mechanism of EP400, a gene that encodes the E1A binding protein p400, which is a core catalytic ATPase subunit of ATP-dependent chromatin remodeling complexes.
Mitoribosomes are present in the mitochondria of all eukaryotic cells. Their function is to allow the translation of mitochondrial mRNA that exclusively encodes components of the oxidative phosphorylation complexes (OXPHOS).
Researchers from Tel Aviv Sourasky Medical Center presented data from a study that aimed to investigate the genetic mechanisms underlying yellow nail syndrome (YNS), a rare disorder characterized by three features, namely yellow dystrophic nails, lymphedema and chronic lung disease.
