De Novo Large Deletion Leading to Fragile X Syndrome

Fragile X syndrome (FXS) is the most frequent cause of X-linked inherited intellectual disabilities (ID) and the most frequent monogenic form of autism spectrum disorders. It is caused by an expansion of a CGG trinucleotide repeat located in the 5′UTR of the FMR1 gene, resulting in the absence of th...

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Detalhes bibliográficos
Main Authors: Poonnada Jiraanont, Esther Manor, Nazi Tabatadze, Marwa Zafarullah, Guadalupe Mendoza, Gia Melikishvili, Flora Tassone
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-05-01
Colecção:Frontiers in Genetics
Assuntos:
fragile X syndrome
FMR1 gene
miRNA
ASFMR1/FMR4 gene
large deletion
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fgene.2022.884424/full
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