Abstract Background and Aims Genetic testing has changed the clinical management of inherited kidney diseases patients, improving prognosis, surveillance therapy. On other hand, it put geneticists clinicians in front new challenges, as heterogeneity these disorders high number variants, with no clear genotype-phenotype correlation. Method 108 patients underwent genetic analysis through a focuse...

Meckel–Gruber syndrome (MKS) is a rare lethal autosomal recessive disease that is the most common cause of syndromic neural tube defects. There are five causative genes, mapped to six known disease loci, whose products encode proteins involved in formation and function of primary cilia. One of these genes, MKS3 (located on chromosome 8q22.1), is now well-characterized and a number of mutations ...

To identify the cause of a sudden binocular vision decrease in patients with retinitis pigmentosa and bilateral idiopathic demyelinating optic neuritis is difficult, but early diagnosis and treatment significantly improve the prognosis. Here, we report a 6-year-old boy with a progressive binocular vision decrease in 38 days. The patient had a history of night blindness, a mottled retina without...

Primary cilia are cell surface sensory organelles, whose dysfunction underlies various human genetic diseases collectively termed ciliopathies. A new study in The EMBO Journal by Villumsen et al now reveals how stress–response pathways converge to stimulate ciliogenesis by modulating protein composition of centriolar satellites. Better understanding of these mechanisms should bring us closer to...