<prompt> True about Fragile X syndrome isGain of function mutationMales have IQ 20-4010 Female carriers are mentally retardedTriple nucleotide CAG Sequence mutation  <response>: Fragile X Syndrome: - Fragile sites also have a role in tumorigenesis. CGG repeat expansion silences the gene responsible for fragile X mental retardation protein FMRP which regulates the translation of multiple mRNAs to specific proteins, hence it affects the synaptic function. Lack of this FMRP protein upregulates the metabotropic glutamate receptormm pathway. Lack of FMEP also affects the expression of matrix metalloproteinase Clinical Manifestations in Affected Males are:- intellectual disability, autistic behavior, macroorchidismmay not be evident until pubey hyperextensible finger joints, and characteristic facial features long face, large ears, and a prominent square jaw Connective tissue abnormalities: mitral valve prolapse, scoliosis, joint laxity, flat feet Others: seizures 20, recurrent otitis media 60, strabismus 8-30 Developmental delay- mean IQ 42 in Males; IQ is higher if significant residual FMRP is produced e.g., females and mosaic males or unmethylated full mutations Autism 20-30 ADHD 80 Anxiety 70-100 Treatment :- Minocycline lowers MMP9 has resulted in sho term improvements in anxiety, mood, and the clinical Global Impression Scale. M-gluR antanogists under trial Ref:- Nelson 20th edition; pg num:- 622,623 