Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis

Elisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, Roberta Pietrobono, Daniela Orteschi, Veronica Nobile, Cecilia Pucci, Elisa Musto, Marika Pane, Eugenio Maria Mercuri, Giovanni Neri, Maurizio Genuardi, Pietro Chiurazzi, Marcella Zollino

Risultato della ricerca: Contributo in rivistaArticolo in rivista


Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism caused by the instability of a CGG trinucleotide repeat in exon 1 of the FMR1 gene. The co-occurrence of FXS with other genetic disorders has only been occasionally reported. Here, we describe three independent cases of FXS co-segregation with three different genetic conditions, consisting of Duchenne muscular dystrophy (DMD), PPP2R5D–related neurodevelopmental disorder, and 2p25.3 deletion. The co-occurrence of DMD and FXS has been reported only once in a young boy, while in an independent family two affected boys were described, the elder diagnosed with FXS and the younger with DMD. This represents the second case in which both conditions coexist in a 5-year-old boy, inherited from his heterozygous mother. The next double diagnosis had never been reported before: through exome sequencing, a girl with FXS who was of 7 years of age with macrocephaly and severe psychomotor delay was found to carry a de novo variant in the PPP2R5D gene. Finally, a maternally inherited 2p25.3 deletion associated with a decreased level of the MYT1L transcript, only in the patient, was observed in a 33-year-old FXS male with severe seizures compared to his mother and two sex-and age-matched controls. All of these patients represent very rare instances of genetic conditions with clinical features that can be modified by FXS and vice versa.
Lingua originaleEnglish
pagine (da-a)1909-1909
Numero di pagine1
Stato di pubblicazionePubblicato - 2021


  • 2p25.3 deletion
  • Adult
  • Child
  • Child, Preschool
  • Duchenne muscular dystrophy
  • Female
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome
  • Fragile X syndrome
  • Humans
  • Male
  • Megalencephaly
  • Muscular Dystrophy, Duchenne
  • Mutation
  • Nerve Tissue Proteins
  • PPP2R5D gene
  • Personalized medicine
  • Protein Phosphatase 2
  • Transcription Factors
  • Whole Exome Sequencing


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