Jervell and Lange-Nielsen syndrome
| Disorder | |
|---|---|
| OMIM #: | #220400 (Click to access OMIM database) |
| Disorder: | Jervell and Lange-Nielsen syndrome |
| Also known as: | DEAFNESS, CONGENITAL, AND FUNCTIONAL HEART DISEASE, PROLONGED QT INTERVAL IN EKG AND SUDDEN DEATH, CARDIOAUDITORY SYNDROME OF JERVELL AND LANGE-NIELSEN, SURDO-CARDIAC SYNDROME |
| Clinical | |
| Phenotype: | prolonged QT interval, seizures, syncope, sudden death, arrhythmia, torsade de pointes, congenital sensorineural hearing impairment |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | KCNQ1 |
| Base Change: | c.451_452delCT |
| Amino Acid Change: | p.Leu151GlyfsX133 |
| Last updated: | 2023-01-03 |
| References |
|---|
| Chen Q, Zhang D, Gingell RL, Moss AJ, Napolitano C, Priori SG, Schwartz PJ, Kehoe E, Robinson JL, Schulze-Bahr E, Wang Q, Towbin JA. (1999) Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. Circulation 99(10): 1344-1347. PubMed ID: 10077519 |
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