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Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome
Author(s) -
FernándezJaén Alberto,
Castellanos María del Carmen,
FernándezPerrone Ana Laura,
FernándezMayoralas Daniel Martín,
de la Vega Alberto González,
CallejaPérez Beatriz,
Fernández Ester Corbacho,
Albert Jacobo,
Hombre María Carmen Sánchez
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36559
Subject(s) - intellectual disability , epilepsy , cerebral palsy , gene duplication , etiology , medicine , palsy , comparative genomic hybridization , pediatrics , neuroscience , physical medicine and rehabilitation , genetics , psychiatry , psychology , gene , pathology , biology , genome , alternative medicine
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.