{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T17:54:18Z","timestamp":1740160458895,"version":"3.37.3"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,4,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:sec id=\"j_jpem-2018-0365_s_999\">\n<jats:title id=\"d4355650e11926\">Background<\/jats:title>\n<jats:p>Monoallelic mutations of <jats:italic>GHR<\/jats:italic> have been described in idiopathic short stature (ISS), although the significance of these remain unclear. We report a case of ISS with novel monoallelic S219L mutation of <jats:italic>GHR<\/jats:italic> and discuss the possible significance of monoallelic <jats:italic>GHR<\/jats:italic> mutation in ISS.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2018-0365_s_998\">\n<jats:title id=\"d4355650e11943\">Case presentation<\/jats:title>\n<jats:p>The proband, a 13.9-year-old Japanese boy, had severe short stature (\u22123.8 standard deviation [SD]). Serum insulin-like growth factor (IGF)-I level and growth hormone (GH) secretion was normal. His parents were nonconsanguineous and had normal stature. Genetic analyses revealed a novel monoallelic missense variation in exon 7 of <jats:italic>GHR<\/jats:italic> (S219L). The proband\u2019s mother had the same variation. S219L might be the novel mutation judging from there being no registration of it as a single-nucleotide polymorphism (SNP) in any database, evolutional conservation of Ser<jats:sup>219<\/jats:sup>, in silico analyses, and computational molecular visualization analysis. Furthermore, a review of the literature showed that the median height of missense mutation carriers of <jats:italic>GHR<\/jats:italic> was relatively low.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2018-0365_s_997\">\n<jats:title id=\"d4355650e11960\">Conclusions<\/jats:title>\n<jats:p>We propose the possibility that monoallelic mutation of <jats:italic>GHR<\/jats:italic> increases the susceptibility to short stature.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2018-0365","type":"journal-article","created":{"date-parts":[[2019,3,20]],"date-time":"2019-03-20T09:09:58Z","timestamp":1553072998000},"page":"415-419","source":"Crossref","is-referenced-by-count":2,"title":["A case report and literature review of monoallelic mutation of GHR"],"prefix":"10.1515","volume":"32","author":[{"given":"Marie","family":"Mitani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirohito","family":"Shima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Sato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohiro","family":"Inoguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsutomu","family":"Kamimaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref131","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1056\/NEJM199510263331701","article-title":"Mutations of the growth hormone receptor in children with idiopathic short stature. 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