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Jervell and Lange-Nielsen syndrome 2(JLNS2)

MedGen UID:
394108
Concept ID:
C2676723
Disease or Syndrome
Synonyms: JLNS2
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): KCNE1 (21q22.12)
OMIM®: 612347

Disease characteristics

Excerpted from the GeneReview: Jervell and Lange-Nielsen Syndrome
Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually greater than 500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die prior to age 15 years.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Lisbeth Tranebjærg  |  Ricardo A Samson  |  Glenn Edward Green   view full author information

Clinical features

Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Syncope
MedGen UID:
504784
Concept ID:
CN001173
Finding
Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Prolonged QT interval
MedGen UID:
500908
Concept ID:
CN001508
Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Etiology

Kloth JS, Pagani A, Verboom MC, Malovini A, Napolitano C, Kruit WH, Sleijfer S, Steeghs N, Zambelli A, Mathijssen RH
Br J Cancer 2015 Mar 17;112(6):1011-6. doi: 10.1038/bjc.2015.82. [Epub ahead of print] PMID: 25742483Free PMC Article
Chang RK, Lan YT, Silka MJ, Morrow H, Kwong A, Smith-Lang J, Wallerstein R, Lin HJ
J Pediatr 2014 Mar;164(3):590-5.e1-3. Epub 2013 Dec 31 doi: 10.1016/j.jpeds.2013.11.011. [Epub ahead of print] PMID: 24388587Free PMC Article
Giudicessi JR, Ackerman MJ
Circ Cardiovasc Genet 2013 Apr;6(2):193-200. Epub 2013 Feb 7 doi: 10.1161/CIRCGENETICS.112.964684. [Epub ahead of print] PMID: 23392653Free PMC Article
Coleman MA, Bos JM, Johnson JN, Owen HJ, Deschamps C, Moir C, Ackerman MJ
Circ Arrhythm Electrophysiol 2012 Aug 1;5(4):782-8. Epub 2012 Jul 11 doi: 10.1161/CIRCEP.112.971754. [Epub ahead of print] PMID: 22787014Free PMC Article
Goldenberg I, Moss AJ, Zareba W, McNitt S, Robinson JL, Qi M, Towbin JA, Ackerman MJ, Murphy L
J Cardiovasc Electrophysiol 2006 Nov;17(11):1161-8. Epub 2006 Aug 14 doi: 10.1111/j.1540-8167.2006.00587.x. [Epub ahead of print] PMID: 16911578

Diagnosis

Chang RK, Lan YT, Silka MJ, Morrow H, Kwong A, Smith-Lang J, Wallerstein R, Lin HJ
J Pediatr 2014 Mar;164(3):590-5.e1-3. Epub 2013 Dec 31 doi: 10.1016/j.jpeds.2013.11.011. [Epub ahead of print] PMID: 24388587Free PMC Article
Coleman MA, Bos JM, Johnson JN, Owen HJ, Deschamps C, Moir C, Ackerman MJ
Circ Arrhythm Electrophysiol 2012 Aug 1;5(4):782-8. Epub 2012 Jul 11 doi: 10.1161/CIRCEP.112.971754. [Epub ahead of print] PMID: 22787014Free PMC Article
Kang SL, Jackson C, Kelsall W
J Laryngol Otol 2011 Apr;125(4):354-6. Epub 2010 Nov 17 doi: 10.1017/S0022215110002379. [Epub ahead of print] PMID: 21080985
Siem G, Früh A, Leren TP, Heimdal K, Teig E, Harris S
Ear Hear 2008 Apr;29(2):261-9. PMID: 18595190
Zehelein J, Kathoefer S, Khalil M, Alter M, Thomas D, Brockmeier K, Ulmer HE, Katus HA, Koenen M
J Biol Chem 2006 Nov 17;281(46):35397-403. Epub 2006 Sep 19 doi: 10.1074/jbc.M603433200. [Epub ahead of print] PMID: 16987820

Therapy

Kloth JS, Pagani A, Verboom MC, Malovini A, Napolitano C, Kruit WH, Sleijfer S, Steeghs N, Zambelli A, Mathijssen RH
Br J Cancer 2015 Mar 17;112(6):1011-6. doi: 10.1038/bjc.2015.82. [Epub ahead of print] PMID: 25742483Free PMC Article
Coleman MA, Bos JM, Johnson JN, Owen HJ, Deschamps C, Moir C, Ackerman MJ
Circ Arrhythm Electrophysiol 2012 Aug 1;5(4):782-8. Epub 2012 Jul 11 doi: 10.1161/CIRCEP.112.971754. [Epub ahead of print] PMID: 22787014Free PMC Article
Goldenberg I, Moss AJ, Zareba W, McNitt S, Robinson JL, Qi M, Towbin JA, Ackerman MJ, Murphy L
J Cardiovasc Electrophysiol 2006 Nov;17(11):1161-8. Epub 2006 Aug 14 doi: 10.1111/j.1540-8167.2006.00587.x. [Epub ahead of print] PMID: 16911578
Baines DB, Murrell D
Paediatr Anaesth 1999;9(2):156-8. PMID: 10189658
Holland JJ
Anaesthesia 1993 Feb;48(2):149-51. PMID: 7681635

Prognosis

Kloth JS, Pagani A, Verboom MC, Malovini A, Napolitano C, Kruit WH, Sleijfer S, Steeghs N, Zambelli A, Mathijssen RH
Br J Cancer 2015 Mar 17;112(6):1011-6. doi: 10.1038/bjc.2015.82. [Epub ahead of print] PMID: 25742483Free PMC Article
Rocha EA, Pereira FT, Monteiro Mde P, Rocha Neto AC, Rodrigues Sobrinho CR, Scanavacca M
Arq Bras Cardiol 2013 Feb;100(2):e25-6. PMID: 23503835
Buber J, Mathew J, Moss AJ, Hall WJ, Barsheshet A, McNitt S, Robinson JL, Zareba W, Ackerman MJ, Kaufman ES, Luria D, Eldar M, Towbin JA, Vincent M, Goldenberg I
Circulation 2011 Jun 21;123(24):2784-91. Epub 2011 May 31 doi: 10.1161/CIRCULATIONAHA.110.000620. [Epub ahead of print] PMID: 21632495Free PMC Article
Wedekind H, Burde D, Zumhagen S, Debus V, Burkhardtsmaier G, Mönnig G, Breithardt G, Schulze-Bahr E
Eur J Pediatr 2009 Sep;168(9):1107-15. Epub 2008 Dec 20 doi: 10.1007/s00431-008-0896-6. [Epub ahead of print] PMID: 19101729
Goldenberg I, Moss AJ, Zareba W, McNitt S, Robinson JL, Qi M, Towbin JA, Ackerman MJ, Murphy L
J Cardiovasc Electrophysiol 2006 Nov;17(11):1161-8. Epub 2006 Aug 14 doi: 10.1111/j.1540-8167.2006.00587.x. [Epub ahead of print] PMID: 16911578

Clinical prediction guides

Kloth JS, Pagani A, Verboom MC, Malovini A, Napolitano C, Kruit WH, Sleijfer S, Steeghs N, Zambelli A, Mathijssen RH
Br J Cancer 2015 Mar 17;112(6):1011-6. doi: 10.1038/bjc.2015.82. [Epub ahead of print] PMID: 25742483Free PMC Article
Panikkath R, Reinier K, Uy-Evanado A, Teodorescu C, Hattenhauer J, Mariani R, Gunson K, Jui J, Chugh SS
Circ Arrhythm Electrophysiol 2011 Aug;4(4):441-7. Epub 2011 May 18 doi: 10.1161/CIRCEP.110.960658. [Epub ahead of print] PMID: 21593198Free PMC Article
Wedekind H, Burde D, Zumhagen S, Debus V, Burkhardtsmaier G, Mönnig G, Breithardt G, Schulze-Bahr E
Eur J Pediatr 2009 Sep;168(9):1107-15. Epub 2008 Dec 20 doi: 10.1007/s00431-008-0896-6. [Epub ahead of print] PMID: 19101729
Zehelein J, Kathoefer S, Khalil M, Alter M, Thomas D, Brockmeier K, Ulmer HE, Katus HA, Koenen M
J Biol Chem 2006 Nov 17;281(46):35397-403. Epub 2006 Sep 19 doi: 10.1074/jbc.M603433200. [Epub ahead of print] PMID: 16987820
Sopontammarak S, Khongphatthanayothin A, Sa-Nguanchua P
J Med Assoc Thai 2003 Dec;86(12):1149-55. PMID: 14971523

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