Congenital long QT syndrome(LQTS)is a life-threatening ion channelopathy caused by mutations in genes encoding specific ion channels,which can result in malignant arrhythmia of the torsades de pointes type.LQTS type 4...Congenital long QT syndrome(LQTS)is a life-threatening ion channelopathy caused by mutations in genes encoding specific ion channels,which can result in malignant arrhythmia of the torsades de pointes type.LQTS type 4 represents less than 1%of inherited LQTS cases,in contrast to the 90%attributable to types 1-3,it is specifically caused by loss-of-function mutations in the membrane-binding domain of ANK2.Here,a novel ANK2 variant(ANK2c 2245 A>C,resulting in p.Lys749Gln)associated with LQTS type 4 and Wolff-Parkinson-White syndrome was identified in a previously healthy 61-year-old male patient who suffered paroxysmal palpitations and pre-syncope due to recurrent torsades de pointes.展开更多
BACKGROUND Dilated cardiomyopathy(DCM)is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction.The substantial genetic heterogeneity evident in patients wi...BACKGROUND Dilated cardiomyopathy(DCM)is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction.The substantial genetic heterogeneity evident in patients with DCM contributes to variable disease severity and complicates overall prognosis,which can be very poor.AIM To identify pathogenic genes in DCM through pedigree analysis.METHODS Our research team identified a patient with DCM in the clinic.Through invest-igation,we found that the family of this patient has a typical DCM pedigree.High-throughput sequencing technology,next-generation sequencing,was used to sequence the whole exomes of seven samples in the pedigree.RESULTS A novel and potentially pathogenic gene mutation-ANK2p.F3067L-was discovered.The mutation was completely consistent with the clinical information for this DCM pedigree.Sanger sequencing was used to further verify the locus of the mutation in pedigree samples.These results were consistent with those of high-throughput sequencing.CONCLUSIONS ANK2p.F3067L is considered a novel and potentially pathogenic gene mutation in DCM.展开更多
文摘Congenital long QT syndrome(LQTS)is a life-threatening ion channelopathy caused by mutations in genes encoding specific ion channels,which can result in malignant arrhythmia of the torsades de pointes type.LQTS type 4 represents less than 1%of inherited LQTS cases,in contrast to the 90%attributable to types 1-3,it is specifically caused by loss-of-function mutations in the membrane-binding domain of ANK2.Here,a novel ANK2 variant(ANK2c 2245 A>C,resulting in p.Lys749Gln)associated with LQTS type 4 and Wolff-Parkinson-White syndrome was identified in a previously healthy 61-year-old male patient who suffered paroxysmal palpitations and pre-syncope due to recurrent torsades de pointes.
基金Supported by the Jilin Provincial Healthcare Talent Special Program,No.2019SCZT08.
文摘BACKGROUND Dilated cardiomyopathy(DCM)is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction.The substantial genetic heterogeneity evident in patients with DCM contributes to variable disease severity and complicates overall prognosis,which can be very poor.AIM To identify pathogenic genes in DCM through pedigree analysis.METHODS Our research team identified a patient with DCM in the clinic.Through invest-igation,we found that the family of this patient has a typical DCM pedigree.High-throughput sequencing technology,next-generation sequencing,was used to sequence the whole exomes of seven samples in the pedigree.RESULTS A novel and potentially pathogenic gene mutation-ANK2p.F3067L-was discovered.The mutation was completely consistent with the clinical information for this DCM pedigree.Sanger sequencing was used to further verify the locus of the mutation in pedigree samples.These results were consistent with those of high-throughput sequencing.CONCLUSIONS ANK2p.F3067L is considered a novel and potentially pathogenic gene mutation in DCM.
