{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T21:23:39Z","timestamp":1787693019740,"version":"build-2784847793"},"reference-count":27,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2021,9,27]],"date-time":"2021-09-27T00:00:00Z","timestamp":1632700800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0332_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>\n                     <jats:italic>NPR2<\/jats:italic> variants are associated with various short stature and bone dysplasia, such as acromesomelic dysplasia Maroteaux tyoe, individuals with a phenotype similar to L\u00e9ri\u2013Weill syndrome (LWD), and idiopathic short stature (ISS). However, few studies have reported on the relationship between familial short stature (FSS) and <jats:italic>NPR2<\/jats:italic> variants. This study aimed to explore the relationship between FSS and <jats:italic>NPR2<\/jats:italic> variants through the detection and identification of <jats:italic>NPR2<\/jats:italic> variants in children with FSS, phenotypic description, clear treatment plan, and follow-up of treatment effect.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0332_abs_003\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Children who met the FSS diagnostic criteria and had informed consent were included in the study. The trio whole-exome sequencing method (trio-WES) was used to detect and evaluate the <jats:italic>NPR2<\/jats:italic> variants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0332_abs_004\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A total of 16 children with short stature were included in this study (pretreatment height\u00a0\u2264\u00a0\u22122 standard deviation (SD) in both the patient and the shorter parent, unknown genetic etiology). <jats:italic>NPR2<\/jats:italic> variants were identified in 12.5%(2\/16) of the participants. Patient A was a 6-year-old male and 103.7\u00a0cm tall (\u22123.11SD), while Patient B was a 9-year-old female and 123.2\u00a0cm tall (\u22121.88SD). However, their heights increased after recombinant human growth hormone (rhGH) treatment. The height of patient A increased by 0.36SD six months after treatment while that of patient B increased by 1.22SD after one and a half years of treatment.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0332_abs_005\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>\n                     <jats:italic>NPR2<\/jats:italic> variant causes FSS. The growth rate of children significantly improved after rhGH treatment. However, further follow-up study is needed to determine the final height after long-term treatment.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0332","type":"journal-article","created":{"date-parts":[[2021,9,26]],"date-time":"2021-09-26T20:04:19Z","timestamp":1632686659000},"page":"185-190","source":"Crossref","is-referenced-by-count":12,"title":["<i>NPR2<\/i> gene variants in familial short stature: a single-center study"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0458-3683","authenticated-orcid":false,"given":"Ke","family":"Yuan","sequence":"first","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital, Zhejiang University School of Medicine , Hangzhou , Zhejiang Province , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The Lin\u2019an People\u2019s Hospital , Hangzhou , Zhejiang Province , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingqing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital, Zhejiang University School of Medicine , Hangzhou , Zhejiang Province , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital, Zhejiang University School of Medicine , Hangzhou , Zhejiang Province , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianfang","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital, Zhejiang University School of Medicine , Hangzhou , Zhejiang Province , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanlan","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital, Zhejiang University School of Medicine , Hangzhou , Zhejiang Province , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunlin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital, Zhejiang University School of Medicine , Hangzhou , Zhejiang Province , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2021,9,27]]},"reference":[{"key":"2022020803263085941_j_jpem-2021-0332_ref_001","doi-asserted-by":"crossref","unstructured":"Ismail, H, Ness, K. 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