title: A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
abstract: We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy repeats on the normal and inverted region of chromosome 15q13.3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Marwan
authors.initials: M
authors.lastname: Shinawi
authors.forename: Christian P
authors.initials: CP
authors.lastname: Schaaf
authors.forename: Samarth S
authors.initials: SS
authors.lastname: Bhatt
authors.forename: Zhilian
authors.initials: Z
authors.lastname: Xia
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.forename: Sau Wai
authors.initials: SW
authors.lastname: Cheung
authors.forename: Brendan
authors.initials: B
authors.lastname: Lanpher
authors.forename: Sandra
authors.initials: S
authors.lastname: Nagl
authors.forename: Heinrich Stephan
authors.initials: HS
authors.lastname: Herding
authors.forename: Claudia
authors.initials: C
authors.lastname: Nevinny-Stickel
authors.forename: LaDonna L
authors.initials: LL
authors.lastname: Immken
authors.forename: Gayle Simpson
authors.initials: GS
authors.lastname: Patel
authors.forename: Jennifer Ruth
authors.initials: JR
authors.lastname: German
authors.forename: Arthur L
authors.initials: AL
authors.lastname: Beaudet
authors.forename: Pawel
authors.initials: P
authors.lastname: Stankiewicz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D005260:Female; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009421:Nervous System Malformations / Q000235:genetics*; D010641:Phenotype; D011978:Receptors, Nicotinic / Q000235:genetics; D011995:Recombination, Genetic; D012640:Seizures / Q000235:genetics; D064569:alpha7 Nicotinic Acetylcholine Receptor
chemical_list: C579167:Chrna7 protein, human; D011978:Receptors, Nicotinic; D064569:alpha7 Nicotinic Acetylcholine Receptor