title: [Analysis of heterozygous duplication of PMP22 gene in a pedigree affected with Charcot Marie Tooth disease].
abstract: OBJECTIVE
  To analyze mutation of the PMP22 gene in a pedigree affected with Charcot-Marie-Tooth disease.
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood samples of the proband and members from his family, and fetal DNA was extracted from amniotic fluid sample. Multiplex ligation-dependent probe amplification (MLPA) and array-based comparative genomic hybridization (array-CGH) analyses were carried out to determine the copy number of the PMP22 gene. Sanger sequencing was carried out to detect point mutations of the PMP22 gene.
  
  
  RESULTS
  A heterozygous duplication of the PMP22 gene was detected in the proband and his father, while no point mutation, insertion or deletion was found in them. No duplication or deletion of the PMP22 gene was found in other family members.
  
  
  CONCLUSIONS
  Based on clinical symptoms and genetic findings, the heterozygous duplication of the PMP22 gene is probably the cause of the disease in the proband. The fact that the father has carried the same duplication but with no detectable symptom may be due to irregular transmission pattern of the mutation. Genetic counseling for the family should therefore be with caution.
authors: Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, 610041, China; Key Laboratory of Birth Defects and related Obstetric, Gynecologic and Pediatric Diseases of Ministry of Education, Chengdu, Sichuan 610041, China. Email: sunny630@126.com.
authors: Hong
authors: H
authors: Liao
authors: Haixia
authors: H
authors: Zhang
authors: Hongqian
authors: H
authors: Liu
authors: Shanling
authors: S
authors: Liu
authors: He
authors: H
authors: Wang
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D018628:Gene Dosage; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human