Entry - #611493 - ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4 - OMIM

 
ICD+
# 611493

ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
21q22.11 Atrial fibrillation, familial, 4 611493 3 KCNE2 603796
Phenotypic Series
 


▼ TEXT

A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-4 (ATFB4) is caused by heterozygous mutation in the KCNE2 gene (603796) on chromosome 21q22.

▼ Description

Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).

For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.

▼ Molecular Genetics

In a study of 28 unrelated Han Chinese families with atrial fibrillation, Yang et al. (2004) found an arginine-to-cysteine change at codon 27 (R27C; 603796.0004) of KCNE2 in 2 probands. The mutation was present in all affected members in the 2 kindreds and was absent in 462 healthy unrelated Chinese subjects. Similar to KCNQ1 S140G (607542.0032), the KCNE2 R27C mutation had a gain-of-function effect on the KCNQ1-KCNE2 channel.


▼ REFERENCES

  1. Brugada, R., Tapscott, T., Czernuszewicz, G. Z., Marian, A. J., Iglesias, A., Mont, L., Brugada, J., Girona, J., Domingo, A., Bachinski, L. L., Roberts, R. Identification of a genetic locus for familial atrial fibrillation. New Eng. J. Med. 336: 905-911, 1997. [PubMed: 9070470, related citations] [Full Text]

  2. Yang, Y., Xia, M., Jin, Q., Bendahhou, S., Shi, J., Chen, Y., Liang, B., Lin, J., Liu, Y., Liu, B., Zhou, Q., Zhang, D., and 11 others. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am. J. Hum. Genet. 75: 899-905, 2004. [PubMed: 15368194, images, related citations] [Full Text]


Creation Date:
Anne M. Stumpf : 10/3/2007
Edit History:
carol : 06/01/2016
carol : 4/11/2014
mcolton : 4/11/2014
carol : 4/29/2011
alopez : 10/3/2007

# 611493

ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4


ORPHA: 334;   DO: 0050650;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
21q22.11 Atrial fibrillation, familial, 4 611493 3 KCNE2 603796

TEXT

A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-4 (ATFB4) is caused by heterozygous mutation in the KCNE2 gene (603796) on chromosome 21q22.

Description

Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).

For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.

Molecular Genetics

In a study of 28 unrelated Han Chinese families with atrial fibrillation, Yang et al. (2004) found an arginine-to-cysteine change at codon 27 (R27C; 603796.0004) of KCNE2 in 2 probands. The mutation was present in all affected members in the 2 kindreds and was absent in 462 healthy unrelated Chinese subjects. Similar to KCNQ1 S140G (607542.0032), the KCNE2 R27C mutation had a gain-of-function effect on the KCNQ1-KCNE2 channel.


REFERENCES

  1. Brugada, R., Tapscott, T., Czernuszewicz, G. Z., Marian, A. J., Iglesias, A., Mont, L., Brugada, J., Girona, J., Domingo, A., Bachinski, L. L., Roberts, R. Identification of a genetic locus for familial atrial fibrillation. New Eng. J. Med. 336: 905-911, 1997. [PubMed: 9070470] [Full Text: https://doi.org/10.1056/NEJM199703273361302]

  2. Yang, Y., Xia, M., Jin, Q., Bendahhou, S., Shi, J., Chen, Y., Liang, B., Lin, J., Liu, Y., Liu, B., Zhou, Q., Zhang, D., and 11 others. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am. J. Hum. Genet. 75: 899-905, 2004. [PubMed: 15368194] [Full Text: https://doi.org/10.1086/425342]


Creation Date:
Anne M. Stumpf : 10/3/2007

Edit History:
carol : 06/01/2016
carol : 4/11/2014
mcolton : 4/11/2014
carol : 4/29/2011
alopez : 10/3/2007



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 13, 2025