Insight and Recommendations for Fragile X Premutation Associated Conditions from the 5th International Conference on <em>FMR1</em> Premutation

• DOI: 10.20944/preprints202307.0605.v1
• Publication Date: 2023-07-11T01:09:01Z
• Authors: Flora Tassone; Dragana Protic; Emily Allen; Alison D. Archibald; Anna Baud; W Ted Brown; Dejan B. Budimirovic; Jonathan Cohen; Brett Dufour; Rachel Eiges; Nicola Elvassore; Lidia V. Gabis; Samantha J Grudzien; Deborah Hall; David Hessl; Abigail Hogan; Jessica Ezzell Hu...; Peng Jin; Poonnada Jiraanont; Jessica Klusek; R. Frank Kooy; Claudine M Kraan; Cecilia Laterza; Andrea Lee; Karen Lipworth; Molly Losh; Danuta Z Loesch; Reymundo Lozano; Marsha Mailick; Apostolos Manolop...; Verónica Martínez...; Yingratana Amabel...; Robert M. Miller; Alice Montanaro; Matthew W. Mosconi; Sarah Potter; Melissa Raspa; Susan M. Rivera; Katharine Shelly; Peter K. Todd; Katarzyna Tutak; Jun Yi Wang; Anne C Wheeler; Tri Indah Winarni; Marwa Zafarullah; Randi Hagerman
• Keywords: FMR1; Fragile X Syndrome

The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion CGG trinucleotide repeats (55 to 200 CGGs) in 5&amp;#039; untranslated region, and increased levels FMR1 mRNA. Molecular mechanisms leading premutation-associated conditions (FXPAC) include co-transcriptional R loop formations, mRNA toxicity through both RNA gelation into nuclear foci, sequestration various re-peat-binding proteins, repeat-associated non-AUG (RAN) initiated translation potentially toxic proteins. Such molecular contribute subsequent consequences, including mitochondrial dysfunction neuronal death. Clinically, carriers may exhibit a wide range symptoms phenotypes. Any problems associated with premutation, can appropriately be called FXPAC. Fragile X-associated tremor/ataxia syndrome (FXTAS), primary ovarian insufficiency (FXPOI), neuropsychiatric disorders (FXAND) fall under Understanding clinical aspects crucial for accurate diagnosis, genetic counseling, appropriate management affected individuals families. This paper summarizes all known documents presentations discussions that occurred at International Premutation Conference, which took place New Zealand 2023.