Cardiac arrhythmia, ankyrin-B-related

General Information (adopted from Orphanet):

Synonyms, Signs: LQT4, INCLUDED
ANKYRIN-B SYNDROME LONG QT SYNDROME 4, INCLUDED
Long QT syndrome 4
Number of Symptoms 0
OrphanetNr:
OMIM Id: 600919
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
20301308 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Romano-Ward syndrome
 -Rare cardiac disease
 -Rare genetic disease

Comment:

LQT4 (cardiac arrhythmia, ankyrin-B-related) is a sub-type of Romano-Ward syndrome, a variant of the familial long QT syndrome. It is characterized by mutations in the ANKB (ANK2) gene. For symptom annotation please refer to Romano-Ward syndrome.

Symptom Information: Sort by abundance 

Associated genes:

ANK2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
ANK2 rs121912705 pathogenic RCV000019674.27
ANK2 rs35530544 pathogenic RCV000019675.23

Additional Information:

Description: (OMIM) Loss-of-function mutations in ANK2 can result in a broad spectrum of clinical cardiac phenotypes. Carriers of some mutations (e.g., E1425G, 106410.0001) display QT interval prolongation, stress- and/or exercise-induced polymorphic ventricular arrhythmia, syncope, and sudden cardiac death. Patients with ...
Clinical Description OMIM - Long QT Syndrome 4

Schott et al. (1995) reported a large French family segregating a form of long QT syndrome. Among 25 affected members (21 adults and 4 children), the average rate-corrected QT interval was ...

Genotype-Phenotype Correlations OMIM In transfection assays in neonatal mouse cardiomyocytes, Mohler et al. (2007) found that disease-associated human ANK2 mutations caused a range of in vitro phenotypes, with those variants demonstrating the most severe loss of function correlating with the most ...
Molecular genetics OMIM Mohler et al. (2003) sequenced the ankyrin-B gene, which was known to map to the 4q25-q27 region, and identified an A-to-G transition at position 4274 in exon 36, resulting in a glu1425-to-gly substitution (E1425G; 106410.0001), in a patient ...