SHANK1 deletions in males with autism spectrum disorder

Daisuke Sato, Anath C. Lionel, Claire S. Leblond, Aparna Prasad, Dalila Pinto, Susan Walker, Irene O'Connor, Carolyn Russell, Irene E. Drmic, Fadi F. Hamdan, Jacques L. Michaud, Volker Endris, Ralph Roeth, Richard Delorme, Guillaume Huguet, Marion Leboyer, Maria Rastam, Christopher Gillberg, Mark Lathrop, Dimitri J. StavropoulosEvdokia Anagnostou, Rosanna Weksberg, Eric Fombonne, Lonnie Zwaigenbaum, Bridget A. Fernandez, Wendy Roberts, Gudrun A. Rappold, Christian R. Marshall, Thomas Bourgeron, Peter Szatmari, Stephen W. Scherer

Research output: Contribution to journalArticle

179 Citations (Scopus)

Abstract

Recent studies have highlighted the involvement of rare (15,000 controls (p = 0.009). The discovery of apparent reduced penetrance of ASD in females bearing inherited autosomal SHANK1 deletions provides a possible contributory model for the male gender bias in autism. The data are also informative for clinical-genetics interpretations of both inherited and sporadic forms of ASD involving SHANK1.

Original languageEnglish (US)
Pages (from-to)879-887
Number of pages9
JournalAmerican Journal of Human Genetics
Volume90
Issue number5
DOIs
StatePublished - May 4 2012
Externally publishedYes

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Sexism
Penetrance
Autistic Disorder
Autism Spectrum Disorder

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Sato, D., Lionel, A. C., Leblond, C. S., Prasad, A., Pinto, D., Walker, S., ... Scherer, S. W. (2012). SHANK1 deletions in males with autism spectrum disorder. American Journal of Human Genetics, 90(5), 879-887. https://doi.org/10.1016/j.ajhg.2012.03.017

SHANK1 deletions in males with autism spectrum disorder. / Sato, Daisuke; Lionel, Anath C.; Leblond, Claire S.; Prasad, Aparna; Pinto, Dalila; Walker, Susan; O'Connor, Irene; Russell, Carolyn; Drmic, Irene E.; Hamdan, Fadi F.; Michaud, Jacques L.; Endris, Volker; Roeth, Ralph; Delorme, Richard; Huguet, Guillaume; Leboyer, Marion; Rastam, Maria; Gillberg, Christopher; Lathrop, Mark; Stavropoulos, Dimitri J.; Anagnostou, Evdokia; Weksberg, Rosanna; Fombonne, Eric; Zwaigenbaum, Lonnie; Fernandez, Bridget A.; Roberts, Wendy; Rappold, Gudrun A.; Marshall, Christian R.; Bourgeron, Thomas; Szatmari, Peter; Scherer, Stephen W.

In: American Journal of Human Genetics, Vol. 90, No. 5, 04.05.2012, p. 879-887.

Research output: Contribution to journalArticle

Sato, D, Lionel, AC, Leblond, CS, Prasad, A, Pinto, D, Walker, S, O'Connor, I, Russell, C, Drmic, IE, Hamdan, FF, Michaud, JL, Endris, V, Roeth, R, Delorme, R, Huguet, G, Leboyer, M, Rastam, M, Gillberg, C, Lathrop, M, Stavropoulos, DJ, Anagnostou, E, Weksberg, R, Fombonne, E, Zwaigenbaum, L, Fernandez, BA, Roberts, W, Rappold, GA, Marshall, CR, Bourgeron, T, Szatmari, P & Scherer, SW 2012, 'SHANK1 deletions in males with autism spectrum disorder', American Journal of Human Genetics, vol. 90, no. 5, pp. 879-887. https://doi.org/10.1016/j.ajhg.2012.03.017
Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S et al. SHANK1 deletions in males with autism spectrum disorder. American Journal of Human Genetics. 2012 May 4;90(5):879-887. https://doi.org/10.1016/j.ajhg.2012.03.017
Sato, Daisuke ; Lionel, Anath C. ; Leblond, Claire S. ; Prasad, Aparna ; Pinto, Dalila ; Walker, Susan ; O'Connor, Irene ; Russell, Carolyn ; Drmic, Irene E. ; Hamdan, Fadi F. ; Michaud, Jacques L. ; Endris, Volker ; Roeth, Ralph ; Delorme, Richard ; Huguet, Guillaume ; Leboyer, Marion ; Rastam, Maria ; Gillberg, Christopher ; Lathrop, Mark ; Stavropoulos, Dimitri J. ; Anagnostou, Evdokia ; Weksberg, Rosanna ; Fombonne, Eric ; Zwaigenbaum, Lonnie ; Fernandez, Bridget A. ; Roberts, Wendy ; Rappold, Gudrun A. ; Marshall, Christian R. ; Bourgeron, Thomas ; Szatmari, Peter ; Scherer, Stephen W. / SHANK1 deletions in males with autism spectrum disorder. In: American Journal of Human Genetics. 2012 ; Vol. 90, No. 5. pp. 879-887.
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AU - O'Connor, Irene

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