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Previous studies have shown that MOPD II is associated with mutations in the pericentrin (<jats:italic>PCNT<\/jats:italic>) gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We evaluated the clinical features of a 10\u2010year and 7\u2010month\u2010old Chinese girl with MOPD II. Subsequently, next\u2010generation sequencing and flow cytometry were performed to investigate genetic characteristics and the expression of PCNT protein respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient presented with short stature, microcephaly, typical craniofacial features, teeth deformity, thrombocytosis, and a delayed bone age (approximately 7\u00a0years). No abnormality in growth hormone or insulin\u2010like growth factor 1 was detected. Notably, the patient was found to carry a novel homozygous <jats:italic>PCNT<\/jats:italic> mutation (c.6157G&gt;T, p.Glu2053Ter), which was inherited from her healthy heterozygous parents. Meanwhile, significant deficiency of PCNT expression was identified in the patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study identified a novel <jats:italic>PCNT<\/jats:italic> mutation associated with MOPD II, expanded the mutation spectrum of the <jats:italic>PCNT<\/jats:italic> gene and improved our understanding of the molecular basis of MOPD II.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1761","type":"journal-article","created":{"date-parts":[[2021,7,31]],"date-time":"2021-07-31T18:41:48Z","timestamp":1627756908000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel homozygous mutation of the <i>PCNT<\/i> gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II"],"prefix":"10.1002","volume":"9","author":[{"given":"Haifeng","family":"Liu","sequence":"first","affiliation":[{"name":"Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research Yunnan Medical Center for Pediatric Diseases Yunnan Institute of Pediatrics Kunming Children\u2019s Hospital Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Tao","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Kunming Children\u2019s Hospital Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Wang","sequence":"additional","affiliation":[{"name":"Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research Yunnan Medical Center for Pediatric Diseases Yunnan Institute of Pediatrics Kunming Children\u2019s Hospital Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Kunming Children\u2019s Hospital Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoli","family":"He","sequence":"additional","affiliation":[{"name":"Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research Yunnan Medical Center for Pediatric Diseases Yunnan Institute of Pediatrics Kunming Children\u2019s Hospital Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research Yunnan Medical Center for Pediatric Diseases Yunnan Institute of Pediatrics Kunming Children\u2019s Hospital Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuantao","family":"Zhou","sequence":"additional","affiliation":[{"name":"Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research Yunnan Medical Center for Pediatric Diseases Yunnan Institute of Pediatrics Kunming Children\u2019s Hospital Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoning","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pharmacy Kunming Children\u2019s Hospital Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingxing","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Kunming Children\u2019s Hospital Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meiyuan","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Kunming Children\u2019s Hospital Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Kunming Children\u2019s Hospital Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfang","family":"Su","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Kunming Children\u2019s Hospital Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3944-906X","authenticated-orcid":false,"given":"Li","family":"Li","sequence":"additional","affiliation":[{"name":"Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research Yunnan Medical Center for Pediatric Diseases Yunnan Institute of Pediatrics Kunming Children\u2019s Hospital Kunming Yunnan 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