GH1基因突变和分离性生长激素缺乏症(IGHD): 1例家族性IGHD I型病例和系统综述

IF 1.6 4区 医学 Q4 CELL BIOLOGY Growth Hormone & Igf Research Pub Date : 2021-10-01 DOI:10.1016/j.ghir.2021.101423
Qiuyue Li , Zhenran Xu , Miaoying Zhang , Zhuhui Zhao , Bijun Sun , Lin Yang , Wei Lu , Feihong Luo , Chengjun Sun
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引用次数: 1

摘要

背景:由GH1基因突变引起的分离性生长激素缺乏症(IGHD)是一种由内源性生长激素(GH)产生不足引起的罕见疾病。方法报告1例有2例IGHD i型患儿家庭的临床表现和遗传诊断(全外显子组测序[WES]、巢式PCR Sanger测序和rtPCR)。对IGHD病例进行系统回顾,比较各亚型IGHD的身高和治疗结果。结果患者均为汉族非近亲所生的兄弟姐妹。兄弟姐妹都表现出明显的身材矮小,没有其他明显的异常。患者携带GH1的复合杂合突变:缺失和c.456 + 1G >一种导致异常剪接的突变。系统评价确定了365例GH1突变的IGHD病例。其中,Ia型IGHD患者身高受损最为严重,且身高标准差评分随诊断年龄的增加而降低。IGHD II型患者rhGH治疗持续时间最长,而IGHD Ib型患者相对身高改善幅度最大。结论本研究发现2例由复合杂合子GH1缺失和剪接突变引起的I型IGHD。对先前发表的IGHD患者的分析表明,IGHD亚型之间的线性生长存在差异。
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Mutations in GH1 gene and isolated growth hormone deficiency (IGHD): A familial case of IGHD type I and systematic review

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.

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来源期刊
Growth Hormone & Igf Research
Growth Hormone & Igf Research 医学-内分泌学与代谢
CiteScore
3.30
自引率
0.00%
发文量
38
审稿时长
57 days
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.
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