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

Andrew J. Sharp; Heather C. Mefford; Kelly Li; Carl Baker; Cindy Skinner; Roger E. Stevenson; Richard J. Schroer; Francesca Novara; Manuela De Gregori; Roberto Ciccone; Adam Broomer; Iris Casuga; Yu Wang; Chunlin Xiao; Catalin Barbacioru; Giorgio Gimelli; Bernardo Dalla Bernardina; Claudia Torniero; Roberto Giorda; Regina Regan; Victoria Murday; Sahar Mansour; Marco Fichera; Lucia Castiglia; Pinella Failla; Mario Ventura; Zhaoshi Jiang; Gregory M. Cooper; Samantha J L Knight; Corrado Romano; Orsetta Zuffardi; Caifu Chen; Charles E. Schwartz; Evan E. Eichler

doi:10.1038/ng.93

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

Andrew J. Sharp, Heather C. Mefford, Kelly Li, Carl Baker, Cindy Skinner, Roger E. Stevenson, Richard J. Schroer, Francesca Novara, Manuela De Gregori, Roberto Ciccone, Adam Broomer, Iris Casuga, Yu Wang, Chunlin Xiao, Catalin Barbacioru, Giorgio Gimelli, Bernardo Dalla Bernardina, Claudia Torniero, Roberto Giorda, Regina ReganVictoria Murday, Sahar Mansour, Marco Fichera, Lucia Castiglia, Pinella Failla, Mario Ventura, Zhaoshi Jiang, Gregory M. Cooper, Samantha J L Knight, Corrado Romano, Orsetta Zuffardi, Caifu Chen, Charles E. Schwartz, Evan E. Eichler

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	322-328
Number of pages	7
Journal	Nature Genetics
Volume	40
Issue number	3
DOIs	https://doi.org/10.1038/ng.93
Publication status	Published - Mar 2008

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., Broomer, A., Casuga, I., Wang, Y., Xiao, C., Barbacioru, C., Gimelli, G., Bernardina, B. D., Torniero, C., Giorda, R., ... Eichler, E. E. (2008). A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nature Genetics, 40(3), 322-328. https://doi.org/10.1038/ng.93

Sharp, AJ, Mefford, HC, Li, K, Baker, C, Skinner, C, Stevenson, RE, Schroer, RJ, Novara, F, De Gregori, M, Ciccone, R, Broomer, A, Casuga, I, Wang, Y, Xiao, C, Barbacioru, C, Gimelli, G, Bernardina, BD, Torniero, C, Giorda, R, Regan, R, Murday, V, Mansour, S, Fichera, M, Castiglia, L, Failla, P, Ventura, M, Jiang, Z, Cooper, GM, Knight, SJL, Romano, C, Zuffardi, O, Chen, C, Schwartz, CE & Eichler, EE 2008, 'A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures', Nature Genetics, vol. 40, no. 3, pp. 322-328. https://doi.org/10.1038/ng.93

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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.",

author = "Sharp, {Andrew J.} and Mefford, {Heather C.} and Kelly Li and Carl Baker and Cindy Skinner and Stevenson, {Roger E.} and Schroer, {Richard J.} and Francesca Novara and {De Gregori}, Manuela and Roberto Ciccone and Adam Broomer and Iris Casuga and Yu Wang and Chunlin Xiao and Catalin Barbacioru and Giorgio Gimelli and Bernardina, {Bernardo Dalla} and Claudia Torniero and Roberto Giorda and Regina Regan and Victoria Murday and Sahar Mansour and Marco Fichera and Lucia Castiglia and Pinella Failla and Mario Ventura and Zhaoshi Jiang and Cooper, {Gregory M.} and Knight, {Samantha J L} and Corrado Romano and Orsetta Zuffardi and Caifu Chen and Schwartz, {Charles E.} and Eichler, {Evan E.}",

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AU - Schroer, Richard J.

AU - Novara, Francesca

AU - De Gregori, Manuela

AU - Ciccone, Roberto

AU - Broomer, Adam

AU - Casuga, Iris

AU - Wang, Yu

AU - Xiao, Chunlin

AU - Barbacioru, Catalin

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AU - Bernardina, Bernardo Dalla

AU - Torniero, Claudia

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AU - Murday, Victoria

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AU - Fichera, Marco

AU - Castiglia, Lucia

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AU - Ventura, Mario

AU - Jiang, Zhaoshi

AU - Cooper, Gregory M.

AU - Knight, Samantha J L

AU - Romano, Corrado

AU - Zuffardi, Orsetta

AU - Chen, Caifu

AU - Schwartz, Charles E.

AU - Eichler, Evan E.

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

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