학술논문
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Document Type
Article
Author
Sharp, Andrew J.; Mefford, Heather C.; Kelly Li; Baker, Carl; Skinner, Cindy; Stevenson, Roger E.; Schroer, Richard J.; Novara, Francesca; De Gregori, Manuela; Ciccone, Roberto; Broomer, Adam; Casuga, Iris; Yu Wang; Chunlin Xiao; Barbacioru, Catalin; Gimelli, Giorgio; Bernardina, Bernardo Dalla; Torniero, Claudia; Giorda, Roberto; Regan, Regina
Source
Subject
*INTELLECTUAL disabilities
*DEVELOPMENTAL disabilities
*SPASMS
*GENETICS of epilepsy
*GENETICS
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Language
ISSN
1061-4036
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 ∼0.3% (6/2,082 tested), a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes. [ABSTRACT FROM AUTHOR]