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.
