ID 110714
Author
Shinahara, Kumi Department of Pediatrics, The University of Tokushima School of Medicine
Saijo, Takahiko Department of Pediatrics, The University of Tokushima School of Medicine
Mori, Kenji Department of Pediatrics, The University of Tokushima School of Medicine Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Kuroda, Yasuhiro Department of Pediatrics, The University of Tokushima School of Medicine Tokushima University Educator and Researcher Directory
Keywords
FMR1
SSCP analysis
screening
mental retardation
point mutation
Content Type
Journal Article
Description
Fragile X syndrome is one of the most common causes of mental retardation in males, and patients with fragile X syndrome occasionally develop autism. It is usually caused by an expansion of the trinucleotide repeat in the 5’-untranslated region of the FMR1 gene, but in a small number of patients deletions and point mutations have been identified. We screened all 17 exons of the FMR1 gene for mutations in 90 autistic or mentally retarded children using polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis. No mutations were found in 76male patients. However, one female patient was heterozygous for a normal allele and a mutant allele with an A to C substitution at nucleotide 879 in exon 9. This mutation was not found in 50 controls. Reverse transcription-PCR revealed that a large proportion of the mutant transcripts were spliced aberrantly, causing premature termination of the protein synthesis. Although uncommon, point mutations in theFMR1 gene maybe a cause of autism and mental retardation in Japanese patients.
Journal Title
The journal of medical investigation : JMI
ISSN
13431420
NCID
AA11166929
Volume
51
Issue
1-2
Start Page
52
End Page
58
Sort Key
52
Published Date
2004-02
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher
departments
Medical Sciences