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Long QT syndrome 1, recessive

MedGen UID:
865526
•Concept ID:
C4017089
•
Finding
Synonym: LONG QT SYNDROME 1, RECESSIVE
 
OMIM®: 607542

Recent clinical studies

Etiology

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: 35806392Free 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: 30461122Free 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: neurologic and cardiologic evaluation.
Ilhan A, Tuncer C, Komsuoglu SS, Kali S
Pediatr Neurol 1999 Nov;21(5):809-13. doi: 10.1016/s0887-8994(99)00100-9. PMID: 10593671
The arrhythmogenic substrate of the long QT syndrome: genetic basis, pathology, and pathophysiologic mechanisms.
Eggeling T, Höher M, Osterhues HH, Kochs M, Weismüller P, Hombach V
Eur Heart J 1993 Sep;14 Suppl E:73-9. doi: 10.1093/eurheartj/14.suppl_e.73. PMID: 8223759

Diagnosis

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: 35806392Free 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
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
Molecular genetics of long-QT syndrome.
Wattanasirichaigoon D, Beggs AH
Curr Opin Pediatr 1998 Dec;10(6):628-34. doi: 10.1097/00008480-199810060-00016. PMID: 9848024
The long Q-T syndromes.
Gordon N
Brain Dev 1994 Mar-Apr;16(2):153-5. doi: 10.1016/0387-7604(94)90054-x. PMID: 8048706

Therapy

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
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome.
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. PMID: 16911578
The long Q-T syndromes.
Gordon N
Brain Dev 1994 Mar-Apr;16(2):153-5. doi: 10.1016/0387-7604(94)90054-x. PMID: 8048706

Prognosis

Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
Zafari Z, Dalili M, Zeinali S, Saber S, Fazeli Far AF, Akbari MT
J Electrocardiol 2017 Nov-Dec;50(6):912-918. Epub 2017 Jul 12 doi: 10.1016/j.jelectrocard.2017.07.012. PMID: 29033053
Compound heterozygous KCNQ1 mutations (A300T/P535T) in a child with sudden unexplained death: Insights into possible molecular mechanisms based on protein modeling.
Antúnez-Argüelles E, Rojo-Domínguez A, Arregui-Mena AL, Jacobo-Albavera L, Márquez MF, Iturralde-Torres P, Villarreal-Molina MT
Gene 2017 Sep 5;627:40-48. Epub 2017 Jun 9 doi: 10.1016/j.gene.2017.06.011. PMID: 28600177
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
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome.
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. PMID: 16911578
Molecular genetics of long-QT syndrome.
Wattanasirichaigoon D, Beggs AH
Curr Opin Pediatr 1998 Dec;10(6):628-34. doi: 10.1097/00008480-199810060-00016. PMID: 9848024

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: 35806392Free PMC Article
Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness.
Oertli A, Rinné S, Moss R, Kääb S, Seemann G, Beckmann BM, Decher N
Int J Mol Sci 2021 Jan 23;22(3) doi: 10.3390/ijms22031112. PMID: 33498651Free 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
A recessive variant of the Romano-Ward long-QT syndrome?
Priori SG, Schwartz PJ, Napolitano C, Bianchi L, Dennis A, De Fusco M, Brown AM, Casari G
Circulation 1998 Jun 23;97(24):2420-5. doi: 10.1161/01.cir.97.24.2420. PMID: 9641694
The arrhythmogenic substrate of the long QT syndrome: genetic basis, pathology, and pathophysiologic mechanisms.
Eggeling T, Höher M, Osterhues HH, Kochs M, Weismüller P, Hombach V
Eur Heart J 1993 Sep;14 Suppl E:73-9. doi: 10.1093/eurheartj/14.suppl_e.73. PMID: 8223759

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