title: [Copy-number variations of SHANK3 and related clinical phenotypes in children with autism].
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Child Developmental-Behavioral Center, the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, China.
authors.forename: Bi-yuan
authors.initials: BY
authors.lastname: Chen
authors.forename: Xiao-bing
authors.initials: XB
authors.lastname: Zou
authors.forename: Jun
authors.initials: J
authors.lastname: Zhang
authors.forename: Hong-zhu
authors.initials: HZ
authors.lastname: Deng
authors.forename: Jian-ying
authors.initials: JY
authors.lastname: Li
authors.forename: Li-ying
authors.initials: LY
authors.lastname: Li
authors.forename: Chun
authors.initials: C
authors.lastname: Tang
authors.forename: Yuan-yuan
authors.initials: YY
authors.lastname: Zou
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D056915:DNA Copy Number Variations; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins; D010641:Phenotype
chemical_list: D002352:Carrier Proteins; D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human