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Clin Genet
; 102(5): 434-437, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35861186
RESUMO
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.
Assuntos
Transtorno do Espectro Autista , Transtorno do Espectro Autista/genética , Caderinas/genética , Criança , Feminino , Humanos
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