Copy-number variations of SHANK3 and related clinical phenotypes in children with autism / 中华儿科杂志
Chinese Journal of Pediatrics
; (12): 607-611, 2011.
Article
in Zh
| WPRIM
| ID: wpr-276989
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore possible relationship between copy-number variations (CNVs) in 15q11-13, 16p11 and SHANK3 gene by using multiplex ligation-dependent probe amplification (MLPA) and the phenotypes in children with autism and to further explore the clinical application of MLPA to make an etiological diagnosis of Autism.</p><p><b>METHODS</b>The diagnosed of autism was made according to the criteria of the ICD-10 and DSM-IV, with typical cluster of symptoms comprise social disability, communication impairments and repetitious behaviors. MLPA KIT P343-C1 AUTISM-1 was used to detect and describe the incidence of CNVs in these three domains.</p><p><b>RESULTS</b>Among 109 cases collected from 102 autistic pedigrees, 2 individuals had SHANK3 microdeletion, accounting for approximately 2% (2/109) of cases, suggesting the proportion of SHANK3 microdeletion might contribute to typical autism. The phenotypic traits of patients with SHANK3 microdeletions showed homogenicity in severe core symptoms and mental retardation.</p><p><b>CONCLUSIONS</b>SHANK3 microdeletion is an important genetics component for autism, which may explain 2% typical autism cases. SHANK3 microdeletion might explain autistic core symptoms and mental retardation. MLPA is a sensitive and a high throughput technique to detect CNVs in specific DNA segments, which is beneficial for further investigation of etiology of autism.</p>
Full text:
1
Index:
WPRIM
Main subject:
Phenotype
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Autistic Disorder
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Carrier Proteins
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Gene Deletion
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DNA Copy Number Variations
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Genetics
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Nerve Tissue Proteins
Limits:
Child
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Child, preschool
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Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Pediatrics
Year:
2011
Type:
Article