Article
Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature.
European journal of medical genetics - 1 Sept 2026
Lauretti Giulia, Pietrobono Roberta, Niccolini Benedetta, Modafferi Clarissa, Accadia Maria, Piepoli Ada, Orteschi Daniela, Pomponi Maria Grazia, Chiurazzi Pietro, Genuardi Maurizio, Neri Giovanni, Tabolacci Elisabetta
Abstract excerpt
Fragile X syndrome (FXS) is classically caused by CGG repeat expansion in the FMR1 gene leading to gene silencing. We describe two unrelated patients with clinical features consistent with FXS but harbouring distinct molecular mechanisms. The first patient had a pathogenic intronic variant in FMR1, predicted to impair protein function, and no repeat expansion. The second patient carried a complete deletion of the...
Read the complete abstract on PubMedTopics
- Child, Preschool
- Humans
- Male
- Fragile X Messenger Ribonucleoprotein 1
- Fragile X Syndrome