A case report and literature review of monoallelic mutation of GHR

Marie Mitani, Hirohito Shima, Takeshi Sato, Tomohiro Inoguchi, Tsutomu Kamimaki, Maki Fukami, Tomonobu Hasegawa

研究成果: Review article査読

2 被引用数 (Scopus)


Monoallelic mutations of GHR 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 GHR and discuss the possible significance of monoallelic GHR mutation in ISS. The proband, a 13.9-year-old Japanese boy, had severe short stature (-3.8 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 GHR (S219L). The proband's 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 Ser219, in silico analyses, and computational molecular visualization analysis. Furthermore, a review of the literature showed that the median height of missense mutation carriers of GHR was relatively low. We propose the possibility that monoallelic mutation of GHR increases the susceptibility to short stature.

ジャーナルJournal of Pediatric Endocrinology and Metabolism
出版ステータスPublished - 2019 4月 1

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 内分泌学、糖尿病および代謝内科学
  • 内分泌学


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