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 cer...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2014-08, Vol.164A (8), p.2043-2047
Main Authors: 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
Format: Article
Language:English
Subjects:
3q29 microduplication
Brain - pathology
cerebral palsy
Cerebral Palsy - diagnosis
Cerebral Palsy - genetics
Child
Chromosome Disorders - diagnosis
Chromosome Disorders - genetics
Chromosome Duplication - genetics
Comparative Genomic Hybridization
epilepsy
Epilepsy - diagnosis
Epilepsy - genetics
Female
Humans
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Magnetic Resonance Imaging
membrane proteins
p21-activated kinases
Phenotype
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36559