title: Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening.
abstract: The prevalence of Fragile X Syndrome (FXS) is 1 in 4000 in males and 1 in 2500 in males and females, respectively, in the general population. Several screening studies aimed at determining the prevalence of FXS have been conducted in individuals with intellectual disabilities (IDs) with a prevalence varying from 1.15% to 6.3% across different ethnic groups. A previous study in Indonesia showed an FXS prevalence of 1.9% among the ID population. A rapid, effective, and inexpensive method for FMR1 screening, using dried blood spots capable of detecting an expanded FMR1 allele in both males and females, was recently reported. We used this approach to screen 176 blood spots, collected from Central Java, Indonesia, for the presence of expanded FMR1 gene alleles. Samples were collected from high-risk populations: 112 individuals with ID, 32 obtained from individuals with diagnosis of autism spectrum disorders, and 32 individuals with a known family history of FXS. Fourteen subjects carrying an FMR1 expanded allele were identified including 7 premutations (55-200 CGG repeats) and 7 full mutations (>200 repeats). Of the seven subjects identified with a full mutation, one subject was from a non-fragile X family, and six from were families with a history of FXS.
authors: Division of Human Genetic Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.
authors: Tri Indah
authors: TI
authors: Winarni
authors: Agustini
authors: A
authors: Utari
authors: Farmaditya E P
authors: FE
authors: Mundhofir
authors: Tzuhan
authors: T
authors: Tong
authors: Blythe
authors: B
authors: Durbin-Johnson
authors: Sultana M H
authors: SM
authors: Faradz
authors: Flora
authors: F
authors: Tassone
mesh_terms: D000483:Alleles; D059788:Dried Blood Spot Testing / Q000191:economics / Q000379:methods*; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D006801:Humans; D007214:Indonesia; D008297:Male; D009154:Mutation; D015995:Prevalence; D012306:Risk; D013997:Time Factors; D019680:Trinucleotide Repeat Expansion
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human