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Cited by 222Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder

Open access
Reddy, Kavita S·2005·BMC Medical Genetics
DOI 10.1186/1471-2350-6-3PMC PMC548305
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Abstract

BACKGROUND: Autism is a behavioral disorder with impaired social interaction, communication, and repetitive and stereotypic behaviors. About 5-10 % of individuals with autism have 'secondary' autism in which an environmental agent, chromosome abnormality, or single gene disorder can be identified. Ninety percent have idiopathic autism and a major gene has not yet been identified. We have assessed the incidence of chromosome abnormalities and Fragile X syndrome in a population of autistic patients referred to our laboratory. METHODS: Data was analyzed from 433 patients with autistic traits tested using chromosome analysis and/or fluorescence in situ hybridization (FISH) and/or molecular testing for fragile X syndrome by Southern and PCR methods. RESULTS: The median age was 4 years. Sex ratio was 4.5 males to 1 female [354:79]. A chromosome (cs) abnormality was found in 14/421 [3.33 %] cases. The aberrations were: 4/14 [28%] supernumerary markers; 4/14 [28%] deletions; 1/14 [7%] duplication; 3/14 [21%] inversions; 2/14 [14%] translocations. FISH was performed on 23 cases for reasons other than to characterize a previously identified cytogenetic abnormality. All 23 cases were negative. Fragile-X testing by Southern blots and PCR analysis found 7/316 [2.2 %] with an abnormal result. The mutations detected were: a full mutation (fM) and abnormal methylation in 3 [43 %], mosaic mutations with partial methylation of variable clinical significance in 3 [43%] and a permutation carrier [14%]. The frequency of chromosome and fragile-X abnormalities appears to be within the range in reported surveys (cs 4.8-1.7%, FRAX 2-4%). Limitations of our retrospective study include paucity of behavioral diagnostic information, and a specific clinical criterion for testing. CONCLUSIONS: Twenty-eight percent of chromosome abnormalities detected in our study were subtle; therefore a high resolution cytogenetic study with a scrutiny of 15q11.2q13, 2q37 and Xp23.3 region should be standard practice when the indication is autism. The higher incidence of mosaic fragile-X mutations with partial methylation compared to FRAXA positive population [50% vs 15-40%] suggests that faint bands and variations in the Southern band pattern may occur in autistic patients.

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Authors
Reddy, K. S.
Corresponding author
Reddy, Kavita S
Venue
BMC Medical Genetics
Publisher
Springer Science and Business Media LLC
Published
2005-01-18
Volume
6
Issue
1
Pages
3-3
ISSN
1471-2350 (ISSN-L)
DOI
10.1186/1471-2350-6-3
PMC
PMC548305
OpenAlex
W1493214217
Cited by
222
References
123
Citations by year
2026: 1 · 2025: 4 · 2024: 2 · 2023: 5 · 2022: 9 · 2021: 15 · 2020: 11 · 2019: 6 · 2018: 4 · 2017: 9 · 2016: 13 · 2015: 10 · 2014: 15 · 2013: 23 · 2012: 15
FWCI
5.93
Type
journal article
Language
en
Open access
Licence
Locations
  • BMC Medical Genetics (publishedVersion, cc-by)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords
autism spectrum disorder, fragile X syndrome, chromosomal abnormalities, fragile X premutation, chromosome 15q11-q13, chromosome 2q37, fluorescence in situ hybridization, karyology, idiopathic autism, translocation
MeSH terms
Autistic Disorder, Child, Preschool, Chromosome Aberrations, Female, Fragile X Syndrome, Humans, Male, Mutation, Nerve Tissue Proteins, RNA-Binding Proteins, Molecular Epidemiology, Cytogenetic Analysis, Fragile X Messenger Ribonucleoprotein 1

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