Andersen-Tawil syndrome classification
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Andersen–Tawil syndrome may be classified according to genetic mutations into two groups: Type 1 Andersen–Tawil syndrome and type 2 Andersen–Tawil syndrome.
Classification
Andersen–Tawil syndrome may be classified according to genetic mutations into two groups:[1][2][3][4][5]
| Type | Gene involved | Protein involved | Location | Inheritance pattern |
|---|---|---|---|---|
| Andersen–Tawil syndrome (ATS) 1 | KCNJ2 gene (60%) | Kir2.1 inward rectifier potassium channel | 17q24.3 | Autosomal dominant |
| Andersen–Tawil syndrome (ATS) 2 | Unknown gene defect (40%) | Kir2.1 inward rectifier potassium channel | 17q24.3 | Autosomal dominant |
References
- ↑ Nguyen HL, Pieper GH, Wilders R (2013). "Andersen-Tawil syndrome: clinical and molecular aspects". Int J Cardiol. 170 (1): 1–16. doi:10.1016/j.ijcard.2013.10.010. PMID 24383070.
- ↑ Tristani-Firouzi M, Etheridge SP (2010). "Kir 2.1 channelopathies: the Andersen-Tawil syndrome". Pflugers Arch. 460 (2): 289–94. doi:10.1007/s00424-010-0820-6. PMID 20306271.
- ↑ Sansone V, Tawil R (2007). "Management and treatment of Andersen-Tawil syndrome (ATS)". Neurotherapeutics. 4 (2): 233–7. doi:10.1016/j.nurt.2007.01.005. PMID 17395133.
- ↑ Pegan S, Arrabit C, Slesinger PA, Choe S (2006). "Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1". Biochemistry. 45 (28): 8599–606. doi:10.1021/bi060653d. PMID 16834334.
- ↑ Tristani-Firouzi M, Jensen JL, Donaldson MR; et al. (2002). "Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)". J. Clin. Invest. 110 (3): 381–8. PMID 12163457.