De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder
Cristina Hernando-Davalillo1, Adrián Alcalá San Martín1, Mar Borregan Prats1
1Department of Genetic and Molecular Medicine, Pediatric Institute of Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.
Abstract:
Genetic studies have established a connection between FAT1 (FAT atypical cadherin 1) deletion and variants and autism spectrum disorder (ASD). Here, we describe a 7-year-old girl who sought a neurology consultation in order to be evaluated for ASD and was found to have a de novo 4q35.2 duplication containing the FAT1 gene. Similar to other reported cases of FAT1 variants or deletion, this patient exhibits non-syndromic ASD without facial dysmorphism or brain MRI abnormalities. We suggest also considering FAT1 duplication as a potential ASD cause.
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