| Autor: |
Summers, Kim M., Bokil, Nilesh J., Lu, Foong Teng, Low, Jiun Tsuen, Baisden, John M., Duffy, David, Radford, Dorothy J. |
| Zdroj: |
American Journal of Medical Genetics. Part A; March 2010, Vol. 152 Issue: 3 p613-621, 9p |
| Abstrakt: |
A large Australian family affected with long QT syndrome LQTS was studied. The medical characteristics of the 16 clinically affected members were consistent with LQT1. A previously identified mutation in KCNQ1was found in 12 affected individuals and 1 unaffected infant but absent in 4 affected family members. A haplotype consisting of specific alleles for microsatellites flanking in KCNQ1was associated with the mutation. This was absent from the four affected individuals without the mutation, who had three different haplotypes in this region, indicating that LQTS is unlikely to be segregating with KCNQ1in these anomalous family members. A genome scan revealed 12 regions where all four of these individuals shared alleles. One region on chromosome 21 contained the KCNE1, KCNE2, KCNJ6, and KCNJ15genes. A common variant of KCNE1was segregating in the family but did not explain the anomalous cases. A candidate region on chromosome 7 contained the AKAP9and KCND2genes. A previously reported mutation in the Nterminal Yotiao region of AKAP9was absent from the family. No evidence was found implicating any other known or suspected LQTS gene. This family shows that there remain unidentified genetic causes of LQTS which are clinically significant and highlights the difficulties associated with genetic testing in LQTS, since we cannot rule out risk in individuals who are negative for the known mutation in KCNQ1without knowing the second disease locus. © 2010 WileyLiss, Inc. |
| Databáze: |
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