title: Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.
abstract: Bartter syndrome Type IV is a rare subtype of the Bartter syndromes that leads to both severe renal salt wasting and sensorineural deafness. This autosomal recessive disease is caused by mutations in the gene encoding barttin, BSND, an essential subunit of the ClC-K chloride channels expressed in renal and inner ear epithelia. Patients differ in the severity of renal symptoms, which appears to depend on the modification of channel function by the mutant barttin. To date, only a few BSND mutations have been reported, most of which are missense or nonsense mutations. In this study, we report the identification of the first insertion mutation, p.W102Vfs*7, in the BSND gene of a newborn girl with acute clinical symptoms including early-onset chronic renal failure. The results support previous data indicating that mutations that are predicted to abolish barttin expression are associated with a severe phenotype and early onset renal failure.
authors.forename: Augusto Luque
authors.initials: AL
authors.lastname: de Pablos
authors.forename: Victor
authors.initials: V
authors.lastname: García-Nieto
authors.forename: Jesús C
authors.initials: JC
authors.lastname: López-Menchero
authors.forename: Elena
authors.initials: E
authors.lastname: Ramos-Trujillo
authors.forename: Hilaria
authors.initials: H
authors.lastname: González-Acosta
authors.forename: Félix
authors.initials: F
authors.lastname: Claverie-Martín
mesh_terms: D001477:Bartter Syndrome / Q000150:complications / Q000235:genetics*; D018118:Chloride Channels / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D016254:Mutagenesis, Insertional
chemical_list: C440005:BSND protein, human; D018118:Chloride Channels