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Typically, FM causes abnormal methylation of the <jats:italic>FMR1<\/jats:italic> promoter and silencing of <jats:italic>FMR1<\/jats:italic>, leading to reduction of FMRP, a protein essential for normal neurodevelopment. However, if unmethylated, these alleles cause over\u2010expression of <jats:italic>FMR1<\/jats:italic> mRNA which has been associated with Fragile X Tremor and Ataxia Syndrome (FXTAS), a late onset disorder. This report details the molecular and clinical profile of an asymptomatic male (29\u2009years) identified as a result of cascade testing who was found to have a rare unmethylated FM (UFM) allele, as well as premutation (PM: 55\u2013199 CGG) size alleles in multiple tissues. Full\u2010scale IQ was within the normal range and minimal features of autism were observed. Southern blot analysis identified FM smears in blood (220\u2013380 CGG) and saliva (212\u2013378 CGG). A PM of 159 CGG was identified in blood and saliva. <jats:italic>FMR1<\/jats:italic> promoter methylation analysis showed all alleles to be unmethylated. <jats:italic>FMR1<\/jats:italic> mRNA levels were greater than fivefold of median levels in typically developing controls and males with FXS mosaic for PM and FM alleles. Issues raised during genetic counseling related to risk for FXTAS associated with UFM and elevated <jats:italic>FMR1<\/jats:italic> mRNA levels, as well as, reproductive options, with implications for future practice.<\/jats:p>","DOI":"10.1002\/ajmg.a.62106","type":"journal-article","created":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T08:23:31Z","timestamp":1612772611000},"page":"1498-1503","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9250-5193","authenticated-orcid":false,"given":"Anna I.","family":"Jarmolowicz","sequence":"first","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute, Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma K.","family":"Baker","sequence":"additional","affiliation":[{"name":"Diagnosis and Development Murdoch Children's Research Institute, Royal Children's Hospital  Melbourne Victoria Australia"},{"name":"Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics University of Melbourne  Parkville Victoria Australia"},{"name":"School of Psychology and Public Health La Trobe University  Bundoora Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Essra","family":"Bartlett","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute, Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Francis","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute, Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Ling","sequence":"additional","affiliation":[{"name":"Diagnosis and Development Murdoch Children's Research Institute, Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinusha","family":"Gamage","sequence":"additional","affiliation":[{"name":"Diagnosis and Development Murdoch Children's Research Institute, Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin B.","family":"Delatycki","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute, Royal Children's Hospital  Melbourne Victoria Australia"},{"name":"Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics University of Melbourne  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David E.","family":"Godler","sequence":"additional","affiliation":[{"name":"Diagnosis and Development Murdoch Children's Research Institute, Royal Children's Hospital  Melbourne Victoria Australia"},{"name":"Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics University of Melbourne  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,2,5]]},"reference":[{"volume-title":"Manual for the ASEBA adult forms and profiles","year":"2003","author":"Achenbach T. 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