{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T03:51:21Z","timestamp":1790049081032,"version":"4.0.1"},"reference-count":48,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,4,29]],"date-time":"2015-04-29T00:00:00Z","timestamp":1430265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NICHD","award":["HD02274"],"award-info":[{"award-number":["HD02274"]}]},{"name":"NICHD","award":["HD036072"],"award-info":[{"award-number":["HD036072"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Fragile X syndrome (FXS) affects individuals with more than 200 CGG repeats (full mutation) in the fragile X mental retardation 1 (<jats:italic>FMR1<\/jats:italic>) gene. Those born with FXS experience cognitive and social impairments, developmental delays, and some features of autism spectrum disorders. Carriers of a premutation (55\u2013200 CGG repeats) are generally not severely affected early in life; however, are at high risk of developing the late onset neurodegenerative disorder, Fragile X\u2010associated Tremor\/Ataxia Syndrome (FXTAS), or Fragile X\u2010associated Primary Ovarian Insufficiency (FXPOI), and may have other medical conditions such as developmental delay, autism spectrum disorders, hypertension, anxiety, and immune\u2010mediated disorders. Here we present a case of a 58\u2010year\u2010old man with a borderline IQ, average memory skills, and executive function deficits. He met criteria for multiple psychiatric diagnoses and presented with tremor and ataxia, meeting criteria for FXTAS. Molecular testing unveiled a completely unmethylated <jats:italic>FMR1<\/jats:italic> full mutation in peripheral blood mononucleated cells with elevated <jats:italic>FMR1<\/jats:italic> mRNA and premutation alleles of different sizes in two other tissues (primary fibroblasts and sperm), indicating the presence of allele instability based on both inter\u2010 and intra\u2010tissue mosaicism. The observation of FXTAS in this case of a full mutation mosaic man suggests that the pathogenic mechanism underlying this disorder is not observed exclusively in premutation carriers as it was originally thought. The concomitant presence of features of FXS and late onset neurological deterioration with probable FXTAS likely result from a combined molecular pathology of elevated <jats:italic>FMR1<\/jats:italic> mRNA levels, a molecular hallmark of FXTAS and low FMRP expression that leads to FXS. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37125","type":"journal-article","created":{"date-parts":[[2015,4,29]],"date-time":"2015-04-29T11:14:49Z","timestamp":1430306089000},"page":"2154-2161","source":"Crossref","is-referenced-by-count":28,"title":["High functioning male with fragile X syndrome and fragile X\u2010associated tremor\/ataxia syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Kirin","family":"Basuta","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Medicine School of Medicine, University of California Sacramento 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