autosomal recessive manner<unk>  is caused by mutations in the KCNE1 and KCNQ1 genes. The proteins produced by these two genes work together to form a potassium channel that transports positively charged potassium ions out of cells, which is called the slow delayed rectifier potassium current. The movement of potassium ions through these channels is critical for maintaining the normal functions of the inner ear and cardiac muscle.<unk>  is an autosomal recessive disorder meaning that two copies of the genetic mutation are required to produce the full<unk> . Mutations in the same genes can produce milder Romano-Ward forms of long QT<unk>  if only a single copy of the genetic mutation has been inherited. About 90% of cases of<unk>  are caused by mutations in the KCNQ1 gene, leading to<unk>  type 1 <unk> 1). KCNE1 mutations are responsible for the remaining 10% of cases, causing<unk>  type 2 <unk> 2). Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels. These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to the hearing loss and irregular heart rhythm characteristic of<unk> . Type OMIM Gene Notes<unk> 1 KCNQ1 Encodes the α-subunit of the slow delayed rectifier potassium channel KV7.1 carrying the potassium current IKs.<unk> 2 KCNE1 Encodes MinK, a potassium channel β-subunit.
Jervell and Lange-Nielsen syndrome
Long QT syndrome
Fox–Fordyce disease
Andersen–Tawil syndrome
Laron syndrome
Cowden syndrome
Koolen–De Vries syndrome
Prader–Willi syndrome