title: [Genotype, phenotype analysis and follow-up study on patients with Duchenne/Becker muscular dystrophy].
abstract: OBJECTIVE
  To improve the diagnosis and management of Duchenne/Becker muscular dystrophy(DMD/BMD).
  
  
  METHODS
  Clinical features of 90 cases of DMD/BMD were collected. Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes, and multiplex ligation-dependent probe amplification (MLPA) was applied to detect DMD gene to identify genetic mutation. For those patients whose deletion/duplication mutation was not identified, FKRP gene mutation analysis was performed using PCR-DNA direct sequence. All the cases were followed up.
  
  
  RESULTS
  Among the 90 cases of clinically diagnosed DMD/BMD, exons deletion of DMD was detected in 58 cases (64.44%), and exons duplication in 9 (10.00%). Among the 34 mothers with an affected boy but without previous genetic conformation, 17 were confirmed to be carriers with gene deletion/duplication. None of the 23 cases, without detected DMD gene deletion/duplication, carried FKRP gene mutation. Fourteen children were given short-term intermittent prednisone therapy (0.75 mg/kg daily during the first 10 days of each month). The course was not long enough and the sample size was too small to conclude any benefits or side effects. Prenatal diagnosis was provided for one mother in her next pregnancy detecting a female carrier fetus.
  
  
  CONCLUSIONS
  DMD gene deletions mainly occurs between exons 45 and 54, while duplications mostly at 5'-terminus. Identification of the characteristics and types of gene mutation may facilitate the recognition and prognosis prediction of DMD/BMD. MLPA is a non-complex and quick diagnostic tool for DMD/BMD and its carriers, and also helpful in genetic counseling.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yan-zhi
authors.initials: YZ
authors.lastname: Zhang
authors.forename: Hui
authors.initials: H
authors.lastname: Xiong
authors.forename: Xiao-zhu
authors.initials: XZ
authors.lastname: Wang
authors.forename: Shuo
authors.initials: S
authors.lastname: Wang
authors.forename: Jing
authors.initials: J
authors.lastname: Luo
authors.forename: Jing-min
authors.initials: JM
authors.lastname: Wang
authors.forename: Yu-wu
authors.initials: YW
authors.lastname: Jiang
authors.forename: Xing-zhi
authors.initials: XZ
authors.lastname: Chang
authors.forename: Hong
authors.initials: H
authors.lastname: Pan
authors.forename: Jian-guang
authors.initials: JG
authors.lastname: Qi
authors.forename: Wan-zhen
authors.initials: WZ
authors.lastname: Li
authors.forename: Yun
authors.initials: Y
authors.lastname: Yuan
authors.forename: Xi-ru
authors.initials: XR
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005500:Follow-Up Studies; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques; D010641:Phenotype; D055815:Young Adult