De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder. Issue 5 (31st July 2022)

• Record Type: Journal Article
• Authors: Hernando‐Davalillo, Cristina; Martín, Adrián Alcalá San; Borregan Prats, Mar; Ortigoza‐Escobar, Juan Darío
• Is Part Of: Clinical genetics. Volume 102:Issue 5(2022)
• Page Start: 434
• Page End: 437
• Publication Date: 2022-07-31
• Subjects: 4q35.2 -- array CGH -- autism spectrum disorder -- case report -- FAT1 -- microduplication; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.14194
• Languages: English
• ISSNs: 0009-9163

Abstract

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. Abstract : FAT1 (FAT atypical cadherin 1, OMIM*600976) is a gene that encodes a member of a small family of cadherin‐like proteins that are involved in cell–cell adhesion as well as polarity. We report a 7‐year‐old girl with autism spectrum disorder and a de novo 4q35.2 duplication that includes the FAT1 gene.