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

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

Fernández-Jaén, Alberto; Castellanos, María del Carmen; Fernández-Perrone, Ana Laura; Fernández-Mayoralas, Daniel Martín; de la Vega, Alberto González; Calleja-Pérez, Beatriz; Fernández, Ester Corbacho; Albert, Jacobo; Hombre, María Carmen Sánchez

American journal of medical genetics. Part A, August 2014, Volume: 164A, Issue: 8

Journal Article

Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first clinical case with a 1.607 Mb duplication at 3q29 (chr3: 195,731,956–197,339,329), accompanied by severe intellectual disability, epilepsy, and cerebral palsy. This duplication involves 22 genes; PAK2, DLG1, BDH1, and FBXO45 are implicated in neuronal development and synaptic function and could play an important role in this syndrome. We propose considering genetic studies, particularly array comparative genomic hybridization, in patients with epilepsy and/or cerebral palsy of unknown etiology when dysmorphic features are present. © 2014 Wiley Periodicals, Inc.

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