Sick sinus syndrome 1, autosomal recessive; SSS1

Disease ID:860
Name:Sick sinus syndrome 1, autosomal recessive; SSS1
Associated with:1 target
Synonyms
Familial sick sinus syndrome | Sick sinus syndrome | Sick sinus syndrome, congenital | Sinus bradycardia syndrome, familial | Sinus node disease, familial, autosomal recessive | Sinus rhythm, congenital absence of
Database Links
Disease Ontology: DOID:13884
OMIM: 608567
Orphanet: ORPHA166282

Targets

Nav1.5
Role:  The proposed mechanism is failure of action potential initiaion at the border of sinoatrial node and atrium. Missense mutations cause loss-of-function and/or loss of functional expression. Truncation mutations also cause loss of expression.
Comments:  A list of example missense mutations whose functional effects are established is given below. Additional truncation mutations also cause loss-of-function, and additional missense mutations have been identified but not functionally characterized.
References:  4
Mutations:  Nav1.5 is associated with 8 mutation. Click here for details

Ligands

No ligand related data available for Sick sinus syndrome 1, autosomal recessive; SSS1

References

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1. Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George Jr AL. (2003) Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J. Clin. Invest., 112 (7): 1019-28. [PMID:14523039]

2. Makita N, Sasaki K, Groenewegen WA, Yokota T, Yokoshiki H, Murakami T, Tsutsui H. (2005) Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms. Heart Rhythm, 2 (10): 1128-34. [PMID:16188595]

3. Makiyama T, Akao M, Tsuji K, Doi T, Ohno S, Takenaka K, Kobori A, Ninomiya T, Yoshida H, Takano M et al.. (2005) High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. J. Am. Coll. Cardiol., 46 (11): 2100-6. [PMID:16325048]

4. Ruan Y, Liu N, Priori SG. (2009) Sodium channel mutations and arrhythmias. Nat Rev Cardiol, 6 (5): 337-48. [PMID:19377496]

5. Smits JP, Koopmann TT, Wilders R, Veldkamp MW, Opthof T, Bhuiyan ZA, Mannens MM, Balser JR, Tan HL, Bezzina CR et al.. (2005) A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J. Mol. Cell. Cardiol., 38 (6): 969-81. [PMID:15910881]