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
DOIAbstract
International audienceRecent 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
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