{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T19:01:08Z","timestamp":1775588468148,"version":"3.50.1"},"reference-count":58,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T00:00:00Z","timestamp":1690156800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Azrieli Foundation","award":["NICHD P50 HD103526"],"award-info":[{"award-number":["NICHD P50 HD103526"]}]},{"name":"MIND Institute IDDRC","award":["NICHD P50 HD103526"],"award-info":[{"award-number":["NICHD P50 HD103526"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>This study contributes to a greater understanding of the utility of molecular biomarkers to identify clinical phenotypes of fragile X syndrome (FXS). Correlations of baseline clinical trial data (molecular measures\u2014FMR1 mRNA, CYFIP1 mRNA, MMP9 and FMRP protein expression levels, nonverbal IQ, body mass index and weight, language level, NIH Toolbox, adaptive behavior rating, autism, and other mental health correlates) of 59 participants with FXS ages of 6\u201332 years are reported. FMR1 mRNA expression levels correlated positively with adaptive functioning levels, expressive language, and specific NIH Toolbox measures. The findings of a positive correlation of MMP-9 levels with obesity, CYFIP1 mRNA with mood and autistic symptoms, and FMR1 mRNA expression level with better cognitive, language, and adaptive functions indicate potential biomarkers for specific FXS phenotypes. These may be potential markers for future clinical trials for targeted treatments of FXS.<\/jats:p>","DOI":"10.3390\/cells12141920","type":"journal-article","created":{"date-parts":[[2023,7,25]],"date-time":"2023-07-25T01:27:32Z","timestamp":1690248452000},"page":"1920","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5749-1248","authenticated-orcid":false,"given":"Ramkumar","family":"Aishworiya","sequence":"first","affiliation":[{"name":"MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA"},{"name":"Khoo Teck Puat-National University Children\u2019s Medical Institute, National University Health System, Singapore 119074, Singapore"},{"name":"Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei-Hung","family":"Chi","sequence":"additional","affiliation":[{"name":"MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA"},{"name":"Department of Psychiatry, National Cheng Kung University Hospital, Tainan 704, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1856-0535","authenticated-orcid":false,"given":"Marwa","family":"Zafarullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guadalupe","family":"Mendoza","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, 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V.","family":"Bolduc","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Department of Medical Genetics, Women and Children Health Research Institute, University of Alberta, Edmonton, AB T6G 2R3, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastien","family":"Jacquemont","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montreal, QC H3T 1J4, Canada"},{"name":"Department of Pediatrics, University of Montreal, Montreal, QC H3T 1J4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Lipp\u00e9","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montreal, QC H3T 1J4, Canada"},{"name":"Department of Psychology, Universit\u00e9 de Montr\u00e9al, Montreal, QC H3T 1J4, 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