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Eur J Hum Genet. 2016 Apr;24(4):615-8. doi: 10.1038/ejhg.2015.159. Epub 2015 Jul 15.

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

Author information

1
Inserm, UMR_S 910, Faculté de Médecine de La Timone, Marseille, France.
2
Aix Marseille Université, GMGF, Marseille, France.
3
Département de Génétique Médicale, Hôpital d'Enfants de La Timone, Marseille, France.
4
Département de Neuroradiologie, Hôpital d'Adultes de La Timone, Marseille, France.
5
Service de Neurologie Pédiatrique, Hôpital d'Enfants de La Timone, Marseille, France.

Abstract

Variants in the WD repeat 45 (WDR45) gene in human Xp11.23 have recently been identified in patients suffering from neurodegeneration with brain iron accumulation, a genetically and phenotypically heterogeneous condition. WDR45 variants cause a childhood-onset encephalopathy accompanied by neurodegeneration in adulthood and iron accumulation in the basal ganglia. They have been almost exclusively found in females, and male lethality was suggested. Here we describe a male patient suffering from a severe and early neurological phenotype, initially presenting early-onset epileptic spasms in clusters associated with an abnormal interictal electroencephalography showing slow background activity, large amplitude asynchronous spikes and abnormal neurological development. This patient is a carrier of a 19.9-kb microdeletion in Xp11.23 containing three genes, including WDR45. These findings reveal that males with WDR45 deletions are viable, and can present with early-onset epileptic encephalopathy without brain iron accumulation.

PMID:
26173968
PMCID:
PMC4929878
DOI:
10.1038/ejhg.2015.159
[Indexed for MEDLINE]
Free PMC Article

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