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Mutations <jats:italic>c.103_104InsTGGTTTACACCG<\/jats:italic>, <jats:italic>c.513dupG<\/jats:italic>, <jats:italic>c.521_557del<\/jats:italic> and <jats:italic>c.696_699delCAGT<\/jats:italic> had not been reported previously. Hot spot mutation <jats:italic>p.Thr124Met<\/jats:italic> was detected in four unrelated families, and seven patients carried de novo mutations. The onset age indicated a bimodal distribution: prominent clustering in the first and fourth decades. The infantile\u2010onset group included 12 families, the childhood\u2010onset group consisted of two families and the adult\u2010onset group included nine families. The Charcot\u2013Marie\u2013Tooth Disease Neuropathy Score ranged from 3 to 25 with a mean value of 15.85\u2009\u00b1\u20095.88. Mutations that changed the cysteine residue (<jats:italic>p.Arg98Cys<\/jats:italic>, <jats:italic>p.Cys127Trp<\/jats:italic>, <jats:italic>p.Ser140Cys<\/jats:italic> and <jats:italic>p.Cys127Arg<\/jats:italic>) in the extracellular region were more likely to cause severe early\u2010onset Charcot\u2013Marie\u2013Tooth disease type 1B (CMT1B) or Dejerine\u2013Sottas syndrome. Nonsense\u2010mediated mRNA decay mutations <jats:italic>p.Asp35delInsVVYTD<\/jats:italic>, <jats:italic>p.Leu174Argfs*66<\/jats:italic> and <jats:italic>p.Leu172Alafs*63<\/jats:italic> were related to severe infantile\u2010onset CMT1B or Dejerine\u2013Sottas syndrome; however, mutation <jats:italic>p.Val232Valfs*19<\/jats:italic> was associated with a relatively milder childhood\u2010onset CMT1 phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Four novel <jats:italic>MPZ<\/jats:italic> mutations are reported that expand the genetic spectrum. De novo mutations accounted for 30.4% and were most related to a severe infantile\u2010onset phenotype. Genetic and clinical data from this cohort will provide the baseline data necessary for clinical trials and natural history studies.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15700","type":"journal-article","created":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T16:33:11Z","timestamp":1674577991000},"page":"1069-1079","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genotype\u2013phenotype characteristics and baseline natural history of Chinese <i>myelin protein zero gene<\/i> related neuropathy patients"],"prefix":"10.1111","volume":"30","author":[{"given":"Liu","family":"Lei","sequence":"first","affiliation":[{"name":"Health Management Center, Third Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Xiaobo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Third Xiangya Hospital Central South 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