De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder.
Clin Genet
; 102(5): 434-437, 2022 11.
Article
en En
| MEDLINE
| ID: mdl-35861186
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trastorno del Espectro Autista
Tipo de estudio:
Risk_factors_studies
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Clin Genet
Año:
2022
Tipo del documento:
Article
País de afiliación:
España