title: Patients carrying 9q31.1-q32 deletion share common features with Cornelia de Lange Syndrome.
abstract: BACKGROUND
  Cornelia de Lange Syndrome (CdLS) is a rare but severe clinically heterogeneous developmental disorder characterized by facial dysmorphia, growth and cognitive retardation, and abnormalities of limb development.
  
  
  OBJECTIVE
  To determine the pathogenesis of a patient with CdLS.
  
  
  METHODS
  We studied a patient with CdLS by whole exome sequencing, karyotyping and Agilent CGH Array. The results were confirmed by quantitative real-time PCR analysis of the patient and her parents. Further comparison of our patient and cases with partially overlapping deletions retrieved from the literature and databases was undertaken.
  
  
  RESULTS
  Whole exome sequencing had excluded the mutation of cohesion genes such as NIPBL,SMC1A and SMC3. The result of karyotyping showed a deletion of chromosome 9q31.1-q32 and the result of Agilent CGH Array further displayed a 12.01-Mb region of deletion at chromosome bands 9q31.1-q32. Reported cases with the deletion of 9q31.1-q32 share similar features with our CdLS patient. One of the genes in the deleted region, SMC2, belongs to the Structural Maintenance of Chromosomes (SMC) family and regulates gene expression and DNA repair.
  
  
  CONCLUSIONS
  Patients carrying the deletion of 9q31.1-q32 showed similar phenotypes with CdLS.
authors.affiliation: Department of Pediatric Cardiology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, PR. China.
authors.forename: Ruixue
authors.initials: R
authors.lastname: Cao
authors.forename: Tian
authors.initials: T
authors.lastname: Pu
authors.forename: Shaohai
authors.initials: S
authors.lastname: Fang
authors.forename: Fei
authors.initials: F
authors.lastname: Long
authors.forename: Jing
authors.initials: J
authors.lastname: Xie
authors.forename: Yuejuan
authors.initials: Y
authors.lastname: Xu
authors.forename: Sun
authors.initials: S
authors.lastname: Chen
authors.forename: Kun
authors.initials: K
authors.lastname: Sun
authors.forename: Rang
authors.initials: R
authors.lastname: Xu
mesh_terms: D002899:Chromosomes, Human, Pair 9; D055028:Comparative Genomic Hybridization; D003635:De Lange Syndrome / Q000235:genetics* / Q000473:pathology; D004452:Echocardiography; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010641:Phenotype; D017422:Sequence Analysis, DNA