Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy

Am J Med Genet A. 2017 May;173(5):1444-1446. doi: 10.1002/ajmg.a.38180. Epub 2017 Apr 3.

Authors

Sylvia Redon^{1

2}, Caroline Benech^{2

3}, Sacha Schutz¹, Aurore Despres¹, Paul Gueguen^{1

2

4}, Pauline Le Berre^{1

2}, Cédric Le Marechal^{1

2

3

4}, Sylviane Peudenier⁵, Philippe Meriot⁶, Philippe Parent⁵, Claude Ferec^{1

2

3

4}

Affiliations

¹ Laboratoire de génétique moléculaire et d'histocompatibilité, CHRU Morvan, Brest, France.
² INSERM U1078, Brest, France.
³ Etablissement Français du Sang, Brest, France.
⁴ Faculté de Médecine, UBO, Brest, France.
⁵ Service de pédiatrie et de génétique médicale, CHRU Morvan, Brest, France.
⁶ Service de radiologie et d'imagerie médicale, CHRU Morvan, Brest, France.

PMID: 28371320
DOI: 10.1002/ajmg.a.38180

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Alleles
Brain / abnormalities
Brain Diseases / diagnosis
Brain Diseases / genetics*
Carrier Proteins / genetics*
Child
Codon
Epilepsy / diagnosis
Epilepsy / genetics*
Genotype
Humans
Magnetic Resonance Imaging
Male
Phenotype*
Psychomotor Disorders / diagnosis
Psychomotor Disorders / genetics*
Sequence Deletion*
Severity of Illness Index

Substances

Carrier Proteins
Codon
WDR45 protein, human