Size and methylation mosaicism in males with Fragile X syndrome

• Published in: Expert review of molecular diagnostics Vol. 17; no. 11; p. 1023
• Main Authors: Jiraanont, Poonnada, Kumar, Madhur, Tang, Hiu-Tung, Espinal, Glenda, Hagerman, Paul J, Hagerman, Randi J, Chutabhakdikul, Nuanchan, Tassone, Flora
• Format: Journal Article
• Language: English
• Published: England 02.11.2017
• Subjects: Adolescent; Adult; Alleles; Child; Child, Preschool; DNA Methylation; Fragile X Mental Retardation Protein - genetics; Fragile X Syndrome - diagnosis; Fragile X Syndrome - genetics; Gene Expression Regulation; Humans; Infant; Male; Mosaicism; Mutation; RNA, Messenger - genetics; Sequence Analysis, DNA; Sequence Deletion; Trinucleotide Repeat Expansion; Young Adult; transcription; FMRP; deletion; methylation; fragile X syndrome; mosaicism; FMR1mRNA

Size and methylation mosaicism are a common phenomenon in Fragile X syndrome (FXS). Here, the authors report a study on twelve fragile X males with atypical mosaicism, seven of whom presented with autism spectrum disorder. A combination of Southern Blot and PCR analysis was used for CGG allele sizin...