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Jervell and Lange-Nielsen syndrome(JLNS)

MedGen UID:: 5929
•Concept ID:: C0022387
•: Disease or Syndrome

Synonyms:	Jervell-Lange Nielsen syndrome; JLNS
SNOMED CT:	Jervell and Lange-Nielsen syndrome (373905003); Cardio-auditory syndrome (373905003)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0002441
OMIM®:	220400
OMIM® Phenotypic series:	PS220400
Orphanet:	ORPHA90647

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 >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 before age 15 years. [from GeneReviews]

Authors:
Lisbeth Tranebjærg | Ricardo A Samson | Glenn Edward Green view full author information

Additional description

From MedlinePlus Genetics
Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death. https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Congenital long QT syndrome
- Congenital long QT syndrome
  - Congenital long QT syndrome
    - Congenital long QT syndrome
      - Congenital long QT syndrome
        Congenital long QT syndrome
        Jervell and Lange-Nielsen syndrome

Follow this link to review classifications for Jervell and Lange-Nielsen syndrome in Orphanet.

Professional guidelines

PubMed

Long QT Syndrome Management during and after Pregnancy.

Marcinkeviciene A, Rinkuniene D, Puodziukynas A
Medicina (Kaunas) 2022 Nov 21;58(11) doi: 10.3390/medicina58111694. PMID: 36422233 Free PMC Article

Genetic testing hearing loss: The challenge of non syndromic mimics.

Gooch C, Rudy N, Smith RJ, Robin NH
Int J Pediatr Otorhinolaryngol 2021 Nov;150:110872. Epub 2021 Aug 16 doi: 10.1016/j.ijporl.2021.110872. PMID: 34433113 Free PMC Article

Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: genetic testing for cardiac electropathies.

Ackerman MJ
Semin Pediatr Neurol 2005 Mar;12(1):52-8. doi: 10.1016/j.spen.2005.02.002. PMID: 15929465

See all (5)

Recent clinical studies

Etiology

Left cardiac sympathetic denervation in children with Jervell Lange-Nielsen syndrome and drug refractory torsades - A case series.

Bhattacharya D, Namboodiri N, Sreelekshmi MP, Prabhu MA, Sreevilasam Pushpangadhan A, Menon S, Dharan BS, Valaparambil A
Pacing Clin Electrophysiol 2023 Oct;46(10):1197-1202. Epub 2023 Sep 20 doi: 10.1111/pace.14827. PMID: 37728293

Long QT Syndrome Management during and after Pregnancy.

Marcinkeviciene A, Rinkuniene D, Puodziukynas A
Medicina (Kaunas) 2022 Nov 21;58(11) doi: 10.3390/medicina58111694. PMID: 36422233 Free PMC Article

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.

Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, Assir MZK, Bandesha AA, Khan AA, Rehman AU, Brewer C, Ahmed W, Leal SM, Riazuddin S, Boyden SE, Friedman TB
Hum Mutat 2019 Feb;40(2):162-176. Epub 2018 Dec 12 doi: 10.1002/humu.23689. PMID: 30461122 Free PMC Article

Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family.

Bostan O, Temel ŞG, Cangül H, Archer CN, Çil E
Pediatr Cardiol 2013;34(8):2063-7. Epub 2013 Feb 12 doi: 10.1007/s00246-013-0634-3. PMID: 23400408

Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

Tranebjaerg L, Bathen J, Tyson J, Bitner-Glindzicz M
Am J Med Genet 1999 Sep 24;89(3):137-46. PMID: 10704188

See all (48)

Diagnosis

Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome.

Zhao N, Yu Z, Cai Z, Chen W, He X, Huo Z, Lin X
BMC Cardiovasc Disord 2023 Aug 12;23(1):399. doi: 10.1186/s12872-023-03417-2. PMID: 37568094 Free PMC Article

Genetics of long-QT syndrome.

Nakano Y, Shimizu W
J Hum Genet 2016 Jan;61(1):51-5. Epub 2015 Jun 25 doi: 10.1038/jhg.2015.74. PMID: 26108145

Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family.

Bostan O, Temel ŞG, Cangül H, Archer CN, Çil E
Pediatr Cardiol 2013;34(8):2063-7. Epub 2013 Feb 12 doi: 10.1007/s00246-013-0634-3. PMID: 23400408

Cochlear implantation in patients with Jervell and Lange-Nielsen syndrome, and a review of literature.

Yanmei F, Yaqin W, Haibo S, Huiqun Z, Zhengnong C, Dongzhen Y, Shankai Y
Int J Pediatr Otorhinolaryngol 2008 Nov;72(11):1723-9. Epub 2008 Sep 20 doi: 10.1016/j.ijporl.2008.07.013. PMID: 18805595

The Jervell and Lange-Nielsen syndrome.

Cusimano F, Martines E, Rizzo C
Int J Pediatr Otorhinolaryngol 1991 Jul;22(1):49-58. doi: 10.1016/0165-5876(91)90096-t. PMID: 1917338

See all (67)

Therapy

Long QT Syndrome Management during and after Pregnancy.

Marcinkeviciene A, Rinkuniene D, Puodziukynas A
Medicina (Kaunas) 2022 Nov 21;58(11) doi: 10.3390/medicina58111694. PMID: 36422233 Free PMC Article

Gene therapy via canalostomy approach preserves auditory and vestibular functions in a mouse model of Jervell and Lange-Nielsen syndrome type 2.

Wu X, Zhang L, Li Y, Zhang W, Wang J, Cai C, Lin X
Nat Commun 2021 Jan 29;12(1):697. doi: 10.1038/s41467-020-20808-7. PMID: 33514733 Free PMC Article

The Jervell and Lange-Nielsen syndrome; atrial pacing combined with ß-blocker therapy, a favorable approach in young high-risk patients with long QT syndrome?

Früh A, Siem G, Holmström H, Døhlen G, Haugaa KH
Heart Rhythm 2016 Nov;13(11):2186-2192. Epub 2016 Jul 20 doi: 10.1016/j.hrthm.2016.07.020. PMID: 27451284

Jervell and Lange-Nielsen syndrome in cochlear implanted patients: our experience and a review of literature.

Eftekharian A, Mahani MH
Int J Pediatr Otorhinolaryngol 2015 Sep;79(9):1544-7. Epub 2015 Jul 14 doi: 10.1016/j.ijporl.2015.07.012. PMID: 26205899

Genetic and clinical advances in congenital long QT syndrome.

Mizusawa Y, Horie M, Wilde AA
Circ J 2014;78(12):2827-33. Epub 2014 Oct 1 doi: 10.1253/circj.cj-14-0905. PMID: 25274057

See all (21)

Prognosis

The combined novel KCNQ1 frameshift I145Sfs*92 and nonsense W392X variants caused Jervell and Lange-Nielsen syndrome in a Chinese infant presenting with sustained foetal bradycardia.

Zhang Y, Li X, Yang Y, Wang J, Gao X, Fan M
Europace 2020 Dec 23;22(12):1880-1884. doi: 10.1093/europace/euaa154. PMID: 32830254

"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

Uysal F, Turkgenc B, Toksoy G, Bostan OM, Evke E, Uyguner O, Yakicier C, Kayserili H, Cil E, Temel SG
BMC Med Genet 2017 Oct 16;18(1):114. doi: 10.1186/s12881-017-0474-8. PMID: 29037160 Free PMC Article

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

Vyas B, Puri RD, Namboodiri N, Nair M, Sharma D, Movva S, Saxena R, Bohora S, Aggarwal N, Vora A, Kumar J, Singh T, Verma IC
Am J Med Genet A 2016 Jun;170(6):1510-9. Epub 2016 Apr 4 doi: 10.1002/ajmg.a.37636. PMID: 27041150

Jervell and Lange-Nielsen syndrome in a father and daughter from a large highly inbred family: a 16-year follow-up of 59 living members.

Sanyal SK, Kaul KK, Hussein A, Wilroy RS, Agarwal K, Sohel S
Cardiol Young 2013 Aug;23(4):530-9. Epub 2013 May 13 doi: 10.1017/S1047951113000164. PMID: 23668803

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome.

Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, Shkolnikova M, Berul CI, Bitner-Glindzicz M, Toivonen L, Horie M, Schulze-Bahr E, Denjoy I
Circulation 2006 Feb 14;113(6):783-90. Epub 2006 Feb 6 doi: 10.1161/CIRCULATIONAHA.105.592899. PMID: 16461811

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Clinical prediction guides

Mutation-Specific Differences in Kv7.1 (KCNQ1) and Kv11.1 (KCNH2) Channel Dysfunction and Long QT Syndrome Phenotypes.

Kekenes-Huskey PM, Burgess DE, Sun B, Bartos DC, Rozmus ER, Anderson CL, January CT, Eckhardt LL, Delisle BP
Int J Mol Sci 2022 Jul 2;23(13) doi: 10.3390/ijms23137389. PMID: 35806392 Free PMC Article

Clinical and genetic characteristics and course of congenital long QT syndrome in children: A nine-year single-center experience.

Ergül Y, Tunca Şahin G, Kafalı HC, Öztürk E, Özgür S, Haydin S, Güzeltaş A
Anatol J Cardiol 2021 Apr;25(4):250-257. doi: 10.14744/AnatolJCardiol.2020.08791. PMID: 33830046 Free PMC Article

The combined novel KCNQ1 frameshift I145Sfs*92 and nonsense W392X variants caused Jervell and Lange-Nielsen syndrome in a Chinese infant presenting with sustained foetal bradycardia.

Zhang Y, Li X, Yang Y, Wang J, Gao X, Fan M
Europace 2020 Dec 23;22(12):1880-1884. doi: 10.1093/europace/euaa154. PMID: 32830254

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome.

See all (27)