Abstract
Background: Autism is characterized by difficulties in social interaction, communication, and repetitive behaviors; with different degrees of severity in each of the core areas. Haploinsufficiency and point mutations of RAI1 are associated with Smith-Magenis syndrome (SMS), a genetic condition that scores within the autism spectrum range for social responsiveness and communication, and is characterized by neurobehavioral abnormalities, intellectual disability, developmental delay, sleep disturbance, and self-injurious behaviors. Methods: To investigate the relationship between Rai1 and social impairment, we evaluated the Rai1+/− mice with a battery of tests to address social behavior in mice. Results: We found that the mutant mice showed diminished interest in social odors, abnormal submissive tendencies, and increased repetitive behaviors when compared to wild type littermates. Conclusions: These findings suggest that Rai1 contributes to social behavior in mice, and prompt it as a candidate gene for the social behaviors observed in Smith-Magenis Syndrome patients.
Highlights
The difficulties and deficits observed in autism span a wide range as the disorder is characterized by various phenotypes
Rai1+/− mice were extensively studied and they both recapitulate Smith-Magenis syndrome (SMS) features very (Table 2), making the Rai1+/− mouse a good model to study the contribution of retinoic acid-induced 1 (RAI1) to the SMS phenotype
To understand the relationship between Rai1 and social behaviors, we examine the social responses of Rai1+/− mice
Summary
The difficulties and deficits observed in autism span a wide range as the disorder is characterized by various phenotypes The spectrum of these phenotypes includes: difficulties in social interaction, verbal and nonverbal communication, and repetitive behaviors. Autism is recognized as an entity by itself, but autistic features are present in several neurodevelopmental syndromes such as: Rett, Fragile-X, Angelman, Prader-Willi, Joubert, Tuberous sclerosis, and 22q13.3 deletion syndromes, among others [1] One of those syndromes that includes autistic features is Smith-Magenis syndrome (SMS; Mendelian Inheritance in Man number (MIM), 182290). Haploinsufficiency and point mutations of RAI1 are associated with Smith-Magenis syndrome (SMS), a genetic condition that scores within the autism spectrum range for social responsiveness and communication, and is characterized by neurobehavioral abnormalities, intellectual disability, developmental delay, sleep disturbance, and self-injurious behaviors. Results: We found that the mutant mice showed diminished interest in social odors, abnormal submissive tendencies, and increased repetitive behaviors when compared to wild type littermates
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