title: Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.
abstract: Myoclonus dystonia (M-D) is a rare genetic movement disorder characterized by a combination of myoclonic jerks and dystonia. It is usually due to mutations in the SGCE gene. We report on a patient with a typical M-D syndrome, but also short stature, microcephaly, and mental retardation. Molecular analysis showed no mutations within the SGCE gene but a microdeletion encompassing the SGCE gene in chromosome region 7q21. Array-CGH analysis showed that the deletion spanned approximately 1.88 Mb. We suggest that M-D plus patients with mental retardation, microcephaly, dysmorphism, or short stature, all frequently associated disorders, should be screened for 7q21 microdeletion. By examining previously published cases of mental retardation associated with pure 7q21 deletions, we identified two distinct regions of respectively 455 and 496 kb that are critical for mental retardation and growth retardation. Among the genes located within these regions, LOC253012, also known as HEPACAM2, is a good candidate for both mental retardation and microcephaly.
authors.affiliation: Department of Genetics, University Hospital of Rouen, Rouen, France. pascale.saugier-veber@chu-rouen.fr
authors.forename: Pascale
authors.initials: P
authors.lastname: Saugier-Veber
authors.forename: Diane
authors.initials: D
authors.lastname: Doummar
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Barthez
authors.forename: Virginie
authors.initials: V
authors.lastname: Czernecki
authors.forename: Nathalie
authors.initials: N
authors.lastname: Drouot
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Apartis
authors.forename: Lydie
authors.initials: L
authors.lastname: Bürglen
authors.forename: Thierry
authors.initials: T
authors.lastname: Frebourg
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Roze
mesh_terms: D000293:Adolescent; D002648:Child; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004421:Dystonia / Q000150:complications* / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009207:Myoclonus / Q000150:complications* / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D013577:Syndrome