Neurologic aspects of MECP2 gene duplication in male patients.
Duplications in Xq28 involving the methyl CpG binding protein 2 gene (MECP2) have been described in male patients with severe mental disability, delayed milestones, absence of language, hypotonia replaced by spasticity and retractions, and recurrent and often severe infections. In a study involving five patients in two families, multiplex ligation-dependent probe amplification was used to screen the Xq28 region that includes MECP2, focusing on the presence of gene duplications. Some manifestations of the disease observed in these patients may occur less regularly than the classical abnormalities. Epilepsy with frequent seizures of the myoclonic-astatic type was observed in these patients and was associated with a slowing of the background electroencephalographic activity, rather than the generalized spike-waves or polyspike-waves usually observed in this type of seizure. In addition, cerebral abnormalities were observed with magnetic resonance imaging that were inconstant and nonspecific but that could nonetheless assist in diagnosis of this genetic pathology.
Echenne
Bernard
B
Neuropediatric Service, CHU Montpellier, Montpellier, France. b-echenne@chu-montpellier.fr
Roubertie
Agathe
A
Lugtenberg
Dorien
D
Kleefstra
Titske
T
Hamel
Ben C J
BC
Van Bokhoven
Hans
H
Lacombe
Didier
D
Philippe
Christophe
C
Jonveaux
Philippe
P
de Brouwer
Arjan P M
AP
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology*; D002648:Child; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D005190:Family; D020440:Gene Duplication; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D012640:Seizures / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D055815:Young Adult
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2