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.
Charcot-Marie-Tooth disease type 2E (CMT2E) is a slow and progressive neuropathy characterized by axonal dysfunction. Its clinical phenotype includes muscle weakness and atrophy, sensory loss and reduced nerve conduction velocity, among others.
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.
The first complete DNA methylation atlas of 39 human cell types reveals which genes can talk or are silenced, depending on whether their sequence is linked to methyl group epigenetic modification that regulates their expression. This map of on-and-off switches shows differences between the alleles inherited from the father and those from the mother, providing a view of gene expression that can be explored in health and disease independently of the information contained in the DNA sequence.
Investigators from Insmed Inc. have presented new preclinical data on the efficacy of their adenoviral vector (AAV9)-based gene therapy INS-1201 for the treatment of Duchenne muscular dystrophy (DMD).
At this week’s Muscular Dystrophy Association Clinical and Scientific Conference in Dallas, researchers from Suzhou Genassist Therapeutics Co. Ltd. presented preclinical data for GEN-6050X (ss.AAV9.oTAM and ss.AAV9.hE50-sgRNA).
To identify new genetic modifiers for epidermolysis bullosa simplex (EBS), a team led by scientists at Tel Aviv Medical Center performed exome sequencing of 195 patients with EBS from 90 different families, followed by screening for pathogenic variants in selected individuals, which resulted in identification of 3 variants in HMCN1 (codes for hemicentin-1) that co-segregated with the disease phenotype severity in 4 families.
Bardet-Biedl syndrome (BBS) is a ciliopathy that leads to progressive blindness due to degeneration of cone photoreceptors, but the mechanisms behind this are not well understood. The syndrome is associated with obesity, polydactyly, cardiovascular disease and skeletal abnormalities, among others, and it is caused by genetic variants in the BBS10 gene in about 40% of the cases.
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.
Lysine demethylase 6A (KDM6A) is a demethylase that plays a key role at regulating developmental gene expression signatures in several tissues, including neuronal cells. The KDM6A gene is located in chromosome X and pathogenic variants in this gene are tied to Kabuki syndrome type 2. Even though progress in understanding the functions of KDM6A has been made, its role in cochlear development and auditory function remains poorly understood.
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