Homozygous mutation in KVLQT1 which causes Jervell and Lange Nielsen syndrome
US6150104A · kind A · utility
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Key dates
| Filing date | Aug 17, 1998 |
| Grant date | Nov 21, 2000 |
| Priority date | — |
| Expiry date | Aug 17, 2018 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/172
- WIPO fieldBiotechnology
- WIPO sectorChemistry
Abstract
Jervell and Lange-Nielsen syndrome (JLN) is an autosomal recessive form of long QT syndrome. In addition to QT interval prolongation, this disorder is associated with congenital deafness. JLN is rare, but affected individuals are susceptible to cardiac arrhythmias with a high incidence of sudden death and short life expectancy. A homozygous mutation in KVLQT1, the potassium channel gene responsible for chromosome 11-linked long QT syndrome, is shown to be a cause of JLN.
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