Qiuyue Li , Zhenran Xu , Miaoying Zhang , Zhuhui Zhao , Bijun Sun , Lin Yang , Wei Lu , Feihong Luo , Chengjun Sun
{"title":"Mutations in GH1 gene and isolated growth hormone deficiency (IGHD): A familial case of IGHD type I and systematic review","authors":"Qiuyue Li , Zhenran Xu , Miaoying Zhang , Zhuhui Zhao , Bijun Sun , Lin Yang , Wei Lu , Feihong Luo , Chengjun Sun","doi":"10.1016/j.ghir.2021.101423","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p><span>Isolated growth hormone deficiency (IGHD) due to mutations in </span><em>GH1</em> gene is a rare disease caused by deficient production of endogenous growth hormone (GH).</p></div><div><h3>Methods</h3><p><span><span>We reported the clinical manifestation and genetic diagnosis (whole exome sequencing [WES], </span>nested PCR<span> Sanger sequencing, and rtPCR) of a family with two children with IGHD type I. We conducted a </span></span>systematic review<span> of cases with IGHD and compared height, and treatment outcomes in subtypes of IGHD.</span></p></div><div><h3>Results</h3><p>The patients were siblings born of nonconsanguineous parents from the Chinese Han population. The siblings both presented significantly short stature without other apparent abnormalities. The patients carry compound heterozygous mutations in <em>GH1</em>: a deletion and c.456 + 1G > A mutation that led to abnormal splicing. The systematic review identified 365 IGHD cases with <em>GH1</em><span> mutations. Among these patients, their body height was most severely impaired in patients<span> with IGHD type Ia, and the height standard deviation score decreased with the age of diagnosis in IGHD type Ia. Patients with IGHD type II had the longest duration of rhGH treatment, while patients with IGHD type Ib had the highest relative height improvement.</span></span></p></div><div><h3>Conclusion</h3><p>We identified two patients with IGHD type I caused by compound heterozygotic <em>GH1</em> deletion and splicing mutation. The analysis of previously published IGHD patients suggests differences in linear growth among subtypes of IGHD.</p></div>","PeriodicalId":12803,"journal":{"name":"Growth Hormone & Igf Research","volume":null,"pages":null},"PeriodicalIF":1.6000,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ghir.2021.101423","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Growth Hormone & Igf Research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1096637421000460","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
引用次数: 1
Abstract
Background
Isolated growth hormone deficiency (IGHD) due to mutations in GH1 gene is a rare disease caused by deficient production of endogenous growth hormone (GH).
Methods
We reported the clinical manifestation and genetic diagnosis (whole exome sequencing [WES], nested PCR Sanger sequencing, and rtPCR) of a family with two children with IGHD type I. We conducted a systematic review of cases with IGHD and compared height, and treatment outcomes in subtypes of IGHD.
Results
The patients were siblings born of nonconsanguineous parents from the Chinese Han population. The siblings both presented significantly short stature without other apparent abnormalities. The patients carry compound heterozygous mutations in GH1: a deletion and c.456 + 1G > A mutation that led to abnormal splicing. The systematic review identified 365 IGHD cases with GH1 mutations. Among these patients, their body height was most severely impaired in patients with IGHD type Ia, and the height standard deviation score decreased with the age of diagnosis in IGHD type Ia. Patients with IGHD type II had the longest duration of rhGH treatment, while patients with IGHD type Ib had the highest relative height improvement.
Conclusion
We identified two patients with IGHD type I caused by compound heterozygotic GH1 deletion and splicing mutation. The analysis of previously published IGHD patients suggests differences in linear growth among subtypes of IGHD.
期刊介绍:
Growth Hormone & IGF Research is a forum for research on the regulation of growth and metabolism in humans, animals, tissues and cells. It publishes articles on all aspects of growth-promoting and growth-inhibiting hormones and factors, with particular emphasis on insulin-like growth factors (IGFs) and growth hormone. This reflects the increasing importance of growth hormone and IGFs in clinical medicine and in the treatment of diseases.