Fragile X syndrome

Clinical, cytogenetic and molecular screening among autism spectrum disorder children in indonesia

T. I. Winarni, A. Utari, F. E P Mundhofir, Randi J Hagerman, S. M H Faradz

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Fragile X testing is a priority in the evaluation of autism spectrum disorders (ASD) cases because identification of the FMR1 mutation leads to new treatment options. This study is focused on determining the prevalence of the FMR1 gene mutation among ASD cases in Indonesia. DSM-IV-TR criteria were administered to diagnose ASD; symptom severity was classified using the Childhood Autism Rating Scale. Cytogenetic analysis, polymerase chain reaction, and Southern blot for FMR1 gene analysis were carried out to confirm the diagnosis of fragile X syndrome. The fragile X site and FMR1 full mutation allele were identified in 3 out of 65 (4.6%) and 4 out of 65 (6.15%) children aged 3-17years (57 boys and 8 girls), respectively. The Fragile X laboratory workup is essential in the evaluation of patients with ASD. Molecular analysis is most accurate, while cytogenetic documentation of the fragile X site can also be useful if molecular testing is not available.

Original languageEnglish (US)
Pages (from-to)577-580
Number of pages4
JournalClinical Genetics
Volume84
Issue number6
DOIs
StatePublished - Dec 2013

Fingerprint

Fragile X Syndrome
Indonesia
Cytogenetics
Mutation
Cytogenetic Analysis
Autistic Disorder
Southern Blotting
Diagnostic and Statistical Manual of Mental Disorders
Documentation
Genes
Alleles
Polymerase Chain Reaction
Autism Spectrum Disorder
Therapeutics

Keywords

  • Autism spectrum disorders
  • FMR1 screening
  • Fragile X site
  • Fragile X syndrome
  • Indonesia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Fragile X syndrome : Clinical, cytogenetic and molecular screening among autism spectrum disorder children in indonesia. / Winarni, T. I.; Utari, A.; Mundhofir, F. E P; Hagerman, Randi J; Faradz, S. M H.

In: Clinical Genetics, Vol. 84, No. 6, 12.2013, p. 577-580.

Research output: Contribution to journalArticle

Winarni, T. I. ; Utari, A. ; Mundhofir, F. E P ; Hagerman, Randi J ; Faradz, S. M H. / Fragile X syndrome : Clinical, cytogenetic and molecular screening among autism spectrum disorder children in indonesia. In: Clinical Genetics. 2013 ; Vol. 84, No. 6. pp. 577-580.
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