Haploinsufficiency of SHANK3 Is Very Likely Cause of PMS Neurological Features

Researchers at the Cytogenetics Laboratory, Scientific Institute E. Medea in Bosisio Parini, Italy have completed a study using 22q13 deletions as a model for examining the mechanisms behind terminal deletions. This study confirms that the major neurological features of Phelan-McDermid Syndrome are caused by haploinsufficiency of the SHANK3 gene. The group identified several cases with a microdeletion only affecting SHANK3. In one case only full-length SHANK3 (also called SHANK3A) was disrupted. Dr. Buxbaum’s lab has previously shown that SHANK3A mutations can cause deficits in social interaction and social communication in mouse models. To read the full text of this study, please click http://www.ncbi.nlm.nih.gov/pubmed/21779178.

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