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Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA

Keiko Shimojima1,2, Nobuhiko Okamoto3, Kayo Ohmura4

  • 1Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

Human Genome Variation
|April 6, 2018
PubMed

Insights

PURA gene haploinsufficiency causes 5q31.3 microdeletion syndrome, leading to developmental delays and epilepsy. Patients with PURA-related disorders require monitoring for seizures, regardless of deletion or mutation.

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Epilepsy

Background:

  • Haploinsufficiency of the PURA gene is a key cause of 5q31.3 microdeletion syndrome.
  • This syndrome presents with severe psychomotor developmental delay, epilepsy, distinct facial features, and delayed myelination.
  • A novel 5q31.2-q31.3 microdeletion encompassing PURA was found in an infant with spasms.

Purpose of the Study:

  • To investigate the role of PURA gene in neurodevelopmental disorders.
  • To characterize the clinical presentation of 5q31.3 microdeletion syndrome and PURA mutations.
  • To highlight the association between PURA-related conditions and epilepsy.

Main Methods:

  • Genetic analysis of patients with 5q31.3 microdeletions.
  • Clinical evaluation of individuals with PURA mutations or deletions.
  • Review of existing literature on PURA-related neurodevelopmental disorders.

Main Results:

  • Approximately 50% of patients with PURA-related neurodevelopmental disorders experience epilepsy.
  • Epilepsy occurs irrespective of whether the condition is caused by a 5q31.3 deletion or a PURA mutation.
  • Infantile spasms were observed in a patient with a new 5q31.2-q31.3 microdeletion including PURA.

Conclusions:

  • PURA haploinsufficiency is a significant genetic cause of neurodevelopmental disorders with epilepsy.
  • Patients diagnosed with 5q31.3 deletion or PURA mutation require vigilant monitoring for epileptic seizures.
  • Early identification and management of epilepsy are crucial for patients with PURA-related conditions.

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