Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Overview
Paper Summary
Truncating variants in SRCAP outside the Floating-Harbor syndrome (FLHS) locus cause a distinct neurodevelopmental disorder characterized by developmental delay, behavioral problems, and musculoskeletal issues. These individuals exhibit a unique DNA methylation signature that distinguishes them from FLHS, supporting the classification of this condition as a separate entity called non-FLHS SRCAP-related NDD.
Explain Like I'm Five
Scientists found that sometimes when a special instruction in our body (called SRCAP) has a mistake, it can cause a new kind of body and brain problem. They can tell this new problem apart from others by looking for a special secret tag on our DNA.
Possible Conflicts of Interest
None identified.
Identified Limitations
Rating Explanation
This study provides valuable insights into the phenotypic and molecular consequences of SRCAP variants outside the FLHS-causing locus, expanding our understanding of this gene's role in neurodevelopmental disorders. The identification of a distinct DNA methylation signature for non-FLHS SRCAP-related NDD is a significant contribution, enhancing diagnostic capabilities. While the small sample size for the distal SRCAP group and the nonspecific clinical features pose limitations, the overall methodology and findings are robust, warranting a rating of 4.
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