基因复制
自闭症谱系障碍
遗传学
自闭症
基因
医学
生物
精神科
作者
Cristina Hernando‐Davalillo,Adrián Alcalá San Martín,Mar Borregan Prats,Juan Darío Ortigoza‐Escobar
摘要
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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