title: PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1.
abstract: BACKGROUND
  Most cases of Charcot-Marie-Tooth (CMT) disease are caused by mutations in the peripheral myelin protein 22 gene (PMP22), including heterozygous duplications (CMT1A), deletions (HNPP), and point mutations (CMT1E).
  
  
  METHODS
  Single-nucleotide polymorphism (SNP) arrays were used to study PMP22 mutations based on the results of multiplex ligation-dependent probe amplification (MLPA) and polymerase chain reaction-restriction fragment length polymorphism methods in 77 Chinese Han families with CMT1. PMP22 sequencing was performed in MLPA-negative probands. Clinical characteristics were collected for all CMT1A/HNPP probands and their family members.
  
  
  RESULTS
  Twenty-one of 77 CMT1 probands (27.3%) carried duplication/deletion (dup/del) copynumber variants. No point mutations were detected. SNP array and MLPA seem to have similar sensitivity. Fifty-seven patients from 19 CMT1A families had the classical CMT phenotype, except for 1 with concomitant CIDP. Two HNPP probands presented with acute ulnar nerve palsy or recurrent sural nerve palsy, respectively.
  
  
  CONCLUSIONS
  The SNP array has wide coverage, high sensitivity, and high resolution and can be used as a screening tool to detect PMP22 dup/del as shown in this Chinese Han population.
authors.affiliation: Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan Province, People's Republic of China.
authors.forename: Yajing
authors.initials: Y
authors.lastname: Zhan
authors.affiliation: Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan Province, People's Republic of China.
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Zi
authors.affiliation: National Key Lab of Medical Genetics, Central South University, Changsha, People's Republic of China.
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
authors.affiliation: National Key Lab of Medical Genetics, Central South University, Changsha, People's Republic of China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Peng
authors.affiliation: National Key Lab of Medical Genetics, Central South University, Changsha, People's Republic of China.
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
authors.affiliation: Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan Province, People's Republic of China.
authors.forename: Xiaobo
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan Province, People's Republic of China.
authors.forename: Mingming
authors.initials: M
authors.lastname: Jiang
authors.affiliation: Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan Province, People's Republic of China.
authors.forename: Lei
authors.initials: L
authors.lastname: Liu
authors.affiliation: Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan Province, People's Republic of China.
authors.forename: Yongzhi
authors.initials: Y
authors.lastname: Xie
authors.affiliation: National Key Lab of Medical Genetics, Central South University, Changsha, People's Republic of China.
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China.
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.affiliation: Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan Province, People's Republic of China.
authors.forename: Ruxu
authors.initials: R
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction; D009185:Myelin Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human
keywords: Charcot-Marie-Tooth disease 1A; SNP array; chronic inflammatory demyelinating polyneuropathy; copynumber variants; hereditary neuropathy with liability to pressure palsies