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Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome

Alberto Fernández-Jaén1, María del Carmen Castellanos, Ana Laura Fernández-Perrone

  • 1Pediatric Neurology Unit, Quiron University Hospital, Madrid, Spain.

American Journal of Medical Genetics. Part A
|May 20, 2014
PubMed

Insights

Interstitial microduplication of 3q29, a rare genetic condition, can cause severe intellectual disability, epilepsy, and cerebral palsy. Genetic testing like array comparative genomic hybridization is recommended for unexplained neurological conditions with dysmorphic features.

Area of Science:

  • Genetics
  • Neurology
  • Developmental Biology

Background:

  • Interstitial microduplication of 3q29 is a recently identified genetic syndrome.
  • The phenotypic spectrum associated with this microduplication is highly variable among affected individuals.

Observation:

  • This report details the first clinical case of a 1.607 Mb duplication at 3q29.
  • The patient presented with severe intellectual disability, epilepsy, and cerebral palsy.

Findings:

  • The 3q29 microduplication encompasses 22 genes, including PAK2, DLG1, BDH1, and FBXO45.
  • These genes are known to be involved in crucial aspects of neuronal development and synaptic function.

Implications:

  • The identified genes may play a significant role in the pathogenesis of the 3q29 microduplication syndrome.
  • Array comparative genomic hybridization should be considered for patients with unexplained epilepsy and/or cerebral palsy, especially if dysmorphic features are present.
Keywords:
3q29 microduplicationcerebral palsyepilepsymembrane proteinsp21-activated kinases

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