Amish, Mennonite, and Hutterite
Genetic Disorder Database

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: Long-QT syndrome, seizures, syncope, sudden death, ventricular arrhythmia, torsade de pointes, hearing impairment 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: KVLQT1
Base Change: 2-bp (CT) deletion
Amino Acid Change: Frame shift
Last updated: 2007-10-09 

References
Chen Q, Zhang D, Gingell RL, Moss AJ, Napolitano C, Priori SG, Schwartz PJ, Kehoe E, Robinson JL, Schulze-Bahr E, Wang Q, and 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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