Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.
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.
Pediatric Neurology Unit, Quiron University Hospital, Madrid, Spain.
Alberto
A
Fernández-Jaén
María del Carmen
Mdel C
Castellanos
Ana Laura
AL
Fernández-Perrone
Daniel Martín
DM
Fernández-Mayoralas
Alberto González
AG
de la Vega
Beatriz
B
Calleja-Pérez
Ester Corbacho
EC
Fernández
Jacobo
J
Albert
María Carmen Sánchez
MC
Hombre
D001921:Brain / Q000473:pathology; D002547:Cerebral Palsy / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D058674:Chromosome Duplication / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D010641:Phenotype
3q29 microduplication; cerebral palsy; epilepsy; membrane proteins; p21-activated kinases