Fragile X Syndrome Participant Characterization

A total of 138 participants aged 1–67 years were enrolled in this study (Table 1). The Cincinnati Fragile X Research and Treatment Center recruited participants with Fragile X Syndrome (FXS) (55 male, 22 female), premutation carriers (PMCs) (2 male, 27 female), and typically developing controls (TDCs) (26 male, 6 female). Rush University completed clinical southern blot (SB) and/or polymerase chain reaction (PCR) testing on 105 participants (76 with FXS, 26 PMCs, and 3 TDCs) to confirm diagnosis and to evaluate repeat and/or methylation mosaicism status. Only one out of 77 FXS participants did not have clinical testing at the time of this study. In these tests, 26 of the 76 participants with FXS were classified as repeat and/or methylation mosaics. TDCs were recruited through online advertisement and did not have a history of developmental or neuropsychiatric disorders. All participants or legal guardians gave written or verbal assent. The CCHMC Institutional Review Board approved this project. Human subject work followed all relevant regulations and was in accordance with the Declaration of Helsinki.