title: A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
abstract: We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo deletions, two who inherited the deletion from an affected parent and two with unknown inheritance. The proximal breakpoint of the largest deletion is contiguous with breakpoint 3 (BP3) of the Prader-Willi and Angelman syndrome region, extending 3.95 Mb distally to BP5. A smaller 1.5-Mb deletion has a proximal breakpoint within the larger deletion (BP4) and shares the same distal BP5. This recurrent 1.5-Mb deletion contains six genes, including a candidate gene for epilepsy (CHRNA7) that is probably responsible for the observed seizure phenotype. The BP4-BP5 region undergoes frequent inversion, suggesting a possible link between this inversion polymorphism and recurrent deletion. The frequency of these microdeletions in mental retardation cases is approximately 0.3% (6/2,082 tested), a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes.
authors.affiliation: Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific St., Seattle, Washington 98195, USA.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Sharp
authors.forename: Heather C
authors.initials: HC
authors.lastname: Mefford
authors.forename: Kelly
authors.initials: K
authors.lastname: Li
authors.forename: Carl
authors.initials: C
authors.lastname: Baker
authors.forename: Cindy
authors.initials: C
authors.lastname: Skinner
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Schroer
authors.forename: Francesca
authors.initials: F
authors.lastname: Novara
authors.forename: Manuela
authors.initials: M
authors.lastname: De Gregori
authors.forename: Roberto
authors.initials: R
authors.lastname: Ciccone
authors.forename: Adam
authors.initials: A
authors.lastname: Broomer
authors.forename: Iris
authors.initials: I
authors.lastname: Casuga
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.forename: Chunlin
authors.initials: C
authors.lastname: Xiao
authors.forename: Catalin
authors.initials: C
authors.lastname: Barbacioru
authors.forename: Giorgio
authors.initials: G
authors.lastname: Gimelli
authors.forename: Bernardo Dalla
authors.initials: BD
authors.lastname: Bernardina
authors.forename: Claudia
authors.initials: C
authors.lastname: Torniero
authors.forename: Roberto
authors.initials: R
authors.lastname: Giorda
authors.forename: Regina
authors.initials: R
authors.lastname: Regan
authors.forename: Victoria
authors.initials: V
authors.lastname: Murday
authors.forename: Sahar
authors.initials: S
authors.lastname: Mansour
authors.forename: Marco
authors.initials: M
authors.lastname: Fichera
authors.forename: Lucia
authors.initials: L
authors.lastname: Castiglia
authors.forename: Pinella
authors.initials: P
authors.lastname: Failla
authors.forename: Mario
authors.initials: M
authors.lastname: Ventura
authors.forename: Zhaoshi
authors.initials: Z
authors.lastname: Jiang
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Cooper
authors.forename: Samantha J L
authors.initials: SJ
authors.lastname: Knight
authors.forename: Corrado
authors.initials: C
authors.lastname: Romano
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Caifu
authors.initials: C
authors.lastname: Chen
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: Evan E
authors.initials: EE
authors.lastname: Eichler
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D002884:Chromosomes, Human, Pair 15; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D006801:Humans; D040582:Inheritance Patterns; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011978:Receptors, Nicotinic / Q000235:genetics; D012640:Seizures / Q000235:genetics*; D013577:Syndrome; D064569:alpha7 Nicotinic Acetylcholine Receptor
chemical_list: C579167:Chrna7 protein, human; D011978:Receptors, Nicotinic; D064569:alpha7 Nicotinic Acetylcholine Receptor