Andersen‐Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity

@article{Donaldson2004AndersenTawilSA,
  title={Andersen‐Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity},
  author={Matthew R. Donaldson and Grace Yoon and Ying-Hui Fu and Louis J. Pt{\'a}{\vc}ek},
  journal={Annals of Medicine},
  year={2004},
  volume={36},
  pages={92 - 97}
}
Due to its varied and variable phenotypes, Andersen‐Tawil syndrome (ATS) holds a unique place in the field of channelopathies. Patients with ATS typically present with the triad of periodic paralysis, cardiac arrhythmias, and developmental dysmorphisms. Although penetrance of ATS is high, disease expression and severity are remarkably variable. Mutations in KCNJ2 are the primary cause of ATS with 21 mutations discovered in 30 families. These mutations affect channel function through… 
Andersen-Tawil syndrome: clinical and molecular aspects.
TLDR
The clinical symptoms, the underlying genetic and molecular defects, and the management and treatment of ATS are summarized.
Andersen-Tawil Syndrome
TLDR
The initial recognition of a syndromic association of clinically diverse symptoms, and the subsequent identification of the underlying molecular genetic basis of ATS has enhanced both clinical care, and understanding of the critical function of Kir2.1 on skeletal muscle excitability and cardiac action potential.
Review Article Andersen-Tawil Syndrome
TLDR
The initial recognition of a syndromic association of clinically diverse symptoms, and the subsequent identification of the underlying molecular genetic basis of ATS has enhanced both clinical care, and understanding of the critical function of Kir2.1 on skeletal muscle excitability and cardiac action potential.
Andersen-Tawil Syndrome: A Comprehensive Review.
TLDR
The purpose of this review is to present historical aspects, nomenclature, epidemiology, genetics, electrocardiography, arrhythmias, electrophysiological mechanisms, diagnostic criteria/clues of periodic paralysis, prognosis, and management of ATS.
Management and treatment of Andersen-Tawil syndrome (ATS)
TLDR
The clinical, laboratory, and genetic features of Andersen-Tawil syndrome are reviewed, with particular emphasis on treatment and management of the concomitant involvement of cardiac and skeletal muscle in ATS.
Kir 2.1 channelopathies: the Andersen–Tawil syndrome
TLDR
The chapter will discuss the most recent data concerning the genetic, cellular, and clinical data underlying this unique disorder of cardiac repolarization.
Lack of Any Cardiac Involvement in a Patient with Andersen-Tawil Syndrome Associated with the c.574A→G Mutation in KCNJ2
TLDR
An Italian ATS1 patient is described, carrying a c.574A→G mutation in KCNJ2, who had both facial dysmorphisms and muscle periodic paralysis but who did not manifest any cardiac involvement, although the same mutation was originally described in a Japanese kindred, in which all affected individuals manifested a severe cardiac phenotype.
Coexistence of Andersen–Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family
  • M. Jagodzińska, M. Szperl, +4 authors E. Biernacka
  • Medicine
    Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc
  • 2016
TLDR
The study assessed the impact of K897T polymorphism in hERG1 gene and H558R polymorphismIn SCN5A gene coexisting with R218Q mutation in KCNJ2 in one family on clinical manifestation.
Andersen-Tawil syndrome (ATS) – Case report and literature review
Andersen-Tawil Syndrome (ATS) is a rare genetic disorder inherited in an autosomal dominant pattern caused by mutations in the KCNJ2 gene encoding Kir2.1 protein forming potassium ion channel,
Andersen-Tawil syndrome (ATS) – Case report and literature review
Andersen-Tawil Syndrome (ATS) is a rare genetic disorder inherited in an autosomal dominant pattern caused by mutations in the KCNJ2 gene encoding Kir2.1 protein forming potassium ion channel,
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TLDR
The functional consequences of three novel and seven previously described KCNJ2 mutations using a two-microelectrode voltage-clamp technique and correlated the findings with the clinical phenotype suggest that the substrate for arrhythmia susceptibility in AS is distinct from the other forms of inherited LQT syndrome.
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.
TLDR
Findings support the suggestion that, in addition to its recognized role in function of cardiac and skeletal muscle, KCNJ2 plays an important role in developmental signaling.
Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome
TLDR
Findings suggest that Kir2.1 plays an important role in developmental signaling in addition to its previously recognized function in controlling cell excitability in skeletal muscle and heart.
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TLDR
This rare familial periodic paralysis is characterized by its association with dysmorphic features (micrognatia) and ventricular arrhythmias and may not be confused with others rhythmic channelopathies (long QT syndromes, catecholaminergic polymorphic ventricular tachycardia and Brugada's syndrome).
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome
TLDR
The novel mutations corresponding to residues involved in Kir2.1 channel–PIP2 interactions presented here as well as the overall frequency of mutations occurring in these residues indicate that defects in PIP2 binding constitute a major pathogenic mechanism of ATS.
Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome.
TLDR
The G215D mutant of KCNJ2 is distributed normally in the plasma membrane, but exhibits a dominant-negative effect and reduces the Kir2.1 current, presumably due to hetero-multimer construction.
Andersen's syndrome: A distinct periodic paralysis
TLDR
It is concluded that Andersen's syndrome is a genetically unique channelopathy affecting both cardiac and skeletal membrane excitability, attacks of paralysis may be either hypokalemic or hyperkalemic, a prolonged QT interval is an integral feature of this syndrome, and a prolongedQT interval may be the only sign in an individual from an otherwise typical AS kindred.
Andersen syndrome autosomal dominant in three generations.
TLDR
A three-generation family with 10 affected members with the largest number of cases reported in one family of Andersen syndrome, with variable expression in the classical triad, permits an early diagnosis and detects the severe systemic manifestations that are associated with this syndrome.
Novel KCNJ2 Mutation in Familial Periodic Paralysis With Ventricular Dysrhythmia
TLDR
T192, which is located in the phosphatidylinositol-4,5-bisphosphate binding site and also the region necessary for Kir2.1 multimerization, is a highly conserved amino acid residue among inward-rectifier channels.
Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome.
TLDR
This work describes a severely affected patient in whom treatment with amiodarone and acetazolamide resulted in sustained remission and programmed electrical stimulation sustained ventricular tachyarrhythmias were inducible.
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