A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

作者：Sharp Andrew J; Mefford Heather C; Li Kelly; Baker Carl; Skinner Cindy; Stevenson Roger E; Schroer Richard J; Novara Francesca; De Gregori Manuela; Ciccone Roberto; Broomer Adam; Casuga Iris; Wang Yu; Xiao Chunlin; Barbacioru Catalin; Gimelli Giorgio; Bernardina Bernardo Dalla; Torniero Claudia; Giorda Roberto; Regan Regina; Murday Victoria; Mansour Sahar; Fichera Marco; Castiglia Lucia; Failla Pinella; Ventura Mario; Jiang Zhaoshi; Cooper Gregory M

来源：Nature Genetics, 2008, 40(3): 322-328.

DOI：10.1038/ng.93

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 similar to 0.3% (6/2,082 tested), a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes.

• 出版日期2008-3
• 单位河北医科大学