First Diagnosis of FAME3 Using Advanced Genetic Sequencing
Summary
Researchers studied a rare genetic condition called Familial Adult Myoclonic Epilepsy type 3 (FAME3), which causes seizures and tremors. The focus was on a 61-year-old woman who had severe seizures that did not respond to treatment. Previous genetic tests had not identified the cause of her condition. The team used a new type of genetic testing called long-read sequencing to look more closely at her DNA.
The main finding was that the researchers discovered a specific genetic change in the MARCHF6 gene, which is linked to FAME3. They found that the woman had two different versions of this gene, one with 15 repeats of a specific DNA sequence and another with a much larger expansion of 661 repeats and 12 additional repeats. This genetic change was also present in her affected family members, suggesting that the condition can vary in severity among different generations.
This discovery is important because it shows that advanced genetic testing can help identify complex genetic issues that standard tests might miss. However, it is essential to note that this study involved a small number of people and was observational. More research is needed to fully understand how this genetic change affects individuals and to confirm these findings in larger groups.
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