Bartter syndrome consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, hypercalciuria and hyperreninaemic hyperaldosteronism. It is classified into five types. Mutations in the KCNJ1 gene (classified as type II) usually cause the neonatal form of Bartter syndrome. We describe an adult patient with a homozygous KCN...

The development of mouse embryos homozygous for oligosyndactylism (Os) is arrested during implantation. Histological investigations confirm a previous report that cells become blocked in mitosis, and air-dried spreads of the mutant embryos reveal that large numbers of cells accumulate in metaphase. Trophoblastic giant cells appear unaffected by the action of the mutant gene both in utero and du...

Cystatin B (CSTB) gene mutations cause Unverricht-Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66G > A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of this mutation at the population level and at the cellular...

Background Country-specific patient rare disease registries are rarely used to make international comparisons because of protocol discrepancies in data collation. Here, we attempt to overcome this limitation by using the inherited disease Cystic Fibrosis (CF) as a paradigm. CF provides a good example because its common form (homozygous F508del-CFTR) occurs across all European social strata appe...

Familial hypercholesterolemia (FH), caused by a defect in the low density lipoprotein (LDL) receptor, results in high plasma concentrations of LDL cholesterol due to both overproduction and delayed catabolism of LDL FH is also associated with significantly lower levels of plasma high density lipoprotein cholesterol and apolipoprotein (apo) A-I in both heterozygous and homozygous patients. Howev...

Background Majeed syndrome is a rare, syndromic form of chronic recurrent multifocal osteomyelitis (CRMO) first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, congenital dyserythropoietic anemia (CDA) and often neutrophilic dermatosis (Sweet syndrome). Homozygous mutations in the LPIN2 gene located on the short arm...

Triggering receptor expressed on myeloid cells 2 (TREM2) homozygous mutations cause Nasu-Hakola disease, an early-onset recessive form of dementia preceded by bone cysts and fractures. The same type of mutations has recently been shown to cause frontotemporal dementia (FTD) without the presence of any bone phenotype. Here, we further confirm the association of TREM2 mutations with FTD-like phen...