AI Article Synopsis
- A boy was diagnosed with Jervell and Lange-Nielsen syndrome (JLNS) due to inherited mutations from both parents: a maternal mutation (Trp248Phe) and a novel paternal mutation (Leu347Arg).
- The father displayed symptoms of long QT syndrome and arrhythmia, while the mother showed no symptoms or ECG issues.
- Both the boy and his father carried another mutation (Thr372Met) linked to sudden infant death syndrome (SIDS), indicating that multiple genetic mutations can affect the severity and type of arrhythmic conditions.
Article Abstract
We encountered a boy with Jervell and Lange-Nielsen syndrome (JLNS) with compound heterozygous mutations, maternal Trp248Phe and a novel paternal mutation, Leu347Arg. His father showed long QT (LQT) and arrhythmia. His mother was asymptomatic with no ECG abnormalities. The proband and his father had an additional mutation ( Thr372Met), which is reportedly related to SIDS. These results suggest that multiple gene mutations influence the phenotype of mutation-related arrhythmia.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7562699 | PMC |
| http://dx.doi.org/10.1038/s41439-020-00121-x | DOI Listing |
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