Andersen-Tawil syndrome classification: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Andersen-Tawil syndrome}} | {{Andersen-Tawil syndrome}} | ||
{{CMG}}; {{AE}} {{ | {{CMG}}; {{AE}} {{VKG}} | ||
==Overview== | ==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 | [[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 == | == Classification == | ||
[[Andersen–Tawil syndrome]] may be classified according to [[genetic mutations]] into two groups:<ref name="pmid24383070">{{cite journal| author=Nguyen HL, Pieper GH, Wilders R| title=Andersen-Tawil syndrome: clinical and molecular aspects. | journal=Int J Cardiol | year= 2013 | volume= 170 | issue= 1 | pages= 1-16 | pmid=24383070 | doi=10.1016/j.ijcard.2013.10.010 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24383070 }}</ref><ref name="pmid20306271">{{cite journal| author=Tristani-Firouzi M, Etheridge SP| title=Kir 2.1 channelopathies: the Andersen-Tawil syndrome. | journal=Pflugers Arch | year= 2010 | volume= 460 | issue= 2 | pages= 289-94 | pmid=20306271 | doi=10.1007/s00424-010-0820-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20306271 }}</ref><ref name="pmid17395133">{{cite journal| author=Sansone V, Tawil R| title=Management and treatment of Andersen-Tawil syndrome (ATS). | journal=Neurotherapeutics | year= 2007 | volume= 4 | issue= 2 | pages= 233-7 | pmid=17395133 | doi=10.1016/j.nurt.2007.01.005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17395133 }}</ref><ref>{{cite journal |author=Pegan S, Arrabit C, Slesinger PA, Choe S |title=Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1|journal=Biochemistry|volume=45 |issue=28 |pages=8599-606 |year=2006 |pmid=16834334 |doi=10.1021/bi060653d}}</ref><ref>{{cite journal|author=Tristani-Firouzi M, Jensen JL, Donaldson MR, ''et al'' |title=Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) |journal=J. Clin. Invest. |volume=110 |issue=3 |pages=381-8 |year=2002 |pmid=12163457 |doi=}}</ref> | |||
Andersen–Tawil syndrome may be classified according to genetic mutations into two groups:<ref name="pmid24383070">{{cite journal| author=Nguyen HL, Pieper GH, Wilders R| title=Andersen-Tawil syndrome: clinical and molecular aspects. | journal=Int J Cardiol | year= 2013 | volume= 170 | issue= 1 | pages= 1-16 | pmid=24383070 | doi=10.1016/j.ijcard.2013.10.010 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24383070 }}</ref> | |||
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!'''Gene involved''' | !'''Gene involved''' | ||
!'''Protein involved''' | !'''Protein involved''' | ||
!'''Location''' | |||
!'''Inheritance pattern''' | |||
|- | |- | ||
|Andersen–Tawil syndrome (ATS) 1 | |[[Andersen–Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]) 1 | ||
|KCNJ2 gene | |[[KCNJ2]] [[gene]] (60%) | ||
|Kir2.1 inward rectifier potassium channel | |Kir2.1 inward rectifier [[potassium channel]] | ||
|17q24.3 | |||
|[[Autosomal dominant]] | |||
|- | |- | ||
|Andersen–Tawil syndrome (ATS) 2 | |[[Andersen–Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]) 2 | ||
|Unknown gene defect | |Unknown [[gene]] defect (40%) | ||
|Kir2.1 inward rectifier potassium channel | |Kir2.1 inward rectifier [[potassium channel]] | ||
|17q24.3 | |||
|[[Autosomal dominant]] | |||
|}<br /> | |||
[ | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
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{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
[[Category:Electrophysiology]] | [[Category:Electrophysiology]] | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Cardiology]] | [[Category:Cardiology]] | ||
Latest revision as of 14:53, 17 February 2020
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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.