PURA-related neurodevelopmental disorders (PURA-NDDs), encompassing 5q31.3 deletion syndrome and PURA syndrome, are characterized by a constellation of symptoms such as hypotonia, severe global developmental delay, and seizures. This systematic review demonstrates that the clinical severity of PURA-NDDs is primarily associated with the extent of PUR-repeat disruption rather than the specific variant location. Notably, PURA variants affecting only regions outside the PUR repeats are linked to a milder phenotype. These genotype-phenotype correlations in PURA-NDDs provide valuable insights for genetic counseling and clinical decision-making. (By Dr. Hiroshi Koga, https://jmg.bmj.com/content/early/2025/01/16/jmg-2024-110379 )
PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations
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