| Autor: |
Abbott, Megan, Angione, Katie, Forbes, Emily, Stoecker, Mikayla, Saenz, Margarita, Neul, Jeffrey L., Marsh, Eric D., Skinner, Steven A., Percy, Alan K., Benke, Tim A. |
| Zdroj: |
American Journal of Medical Genetics. Part A; Oct2024, Vol. 194 Issue 10, p1-5, 5p |
| Abstrakt: |
Typical (or classic) Rett syndrome (RTT) is an X‐linked neurodevelopmental disorder characterized by a period of regression, partial or complete loss of purposeful hand movements, and acquired speech, impaired gait, and stereotyped hand movements. In over 95% of typical RTT, a pathogenic variant is found in the methyl‐CPG binding protein 2 gene (MECP2). Here, we describe a young woman with clinically diagnosed typical RTT syndrome who lacked a genetic diagnosis despite 20 years of investigation and multiple rounds of sequencing the MECP2 gene. Recently, additional genetic testing using next‐generation sequencing was completed, which revealed a partial insertion of the BCL11A gene within exon 4 of MECP2, resulting in a small deletion in MECP2, causing likely disruption of MeCP2 function due to a frameshift. This case demonstrates the ever‐changing limitations of genetic testing, as well as the importance of continual pursuit of a diagnosis as technologies improve and are more widely utilized. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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