Lowe syndrome with extremely short stature: growth hormone deficiency may be the pathogeny

IF 1.8 4区生物学 Q4 CELL BIOLOGY

Growth factors Pub Date : 2019-07-04 DOI:10.1080/08977194.2019.1669589

C. Dai, Liying Wang, Youli Li, Zhichao Zheng, Jieqi Qian, Chaoban Wang, Zishuo Liu, Xiaoou Shan

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引用次数: 2

Abstract

Abstract Lowe syndrome is an x-linked disorder characterized by congenital cataracts, nervous system abnormalities and renal tubular dysfunction. With the rising number of reported cases, more patients are found to suffer from endocrine abnormalities. Hereby, three Chinese patients with typical symptoms and extremely short stature were described. The OCRL gene was analyzed. A combination of blood biochemistry and radiological examinations were performed. Growth hormone provocation test was taken in one patient. Nucleotide sequence analysis revealed a de novo novel hemizygous mutation (c.2290_2291delinsCT) in exon 21 in an adolescent boy. As indicated by the growth hormone provocation test, the boy had growth hormone deficiency. The other two patients were brothers with extremely short stature, and manifested the same hemizygous mutation (c.2581G > A) in exon 23. It was speculated that the mutation of OCRL gene could lead to deficiency of growth hormone, for which an early growth hormone intervention may be beneficial.

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身材极矮的洛氏综合征:生长激素缺乏可能是病因

摘要Lowe综合征是一种以先天性白内障、神经系统异常和肾小管功能障碍为特征的x连锁疾病。随着报告病例数量的增加，越来越多的患者被发现患有内分泌异常。在此，对三名症状典型、身材矮小的中国患者进行了描述。对OCRL基因进行了分析。结合血液生化和放射学检查。对一名患者进行了生长激素激发试验。核苷酸序列分析显示，在一名青春期男孩的外显子21中出现了一个新的半合子突变（c.2290_2291DelisCT）。生长激素激发试验表明，男孩生长激素缺乏。另外两名患者是身材极短的兄弟，表现出相同的半合子突变（约2581G > A）在外显子23中。推测OCRL基因突变可能导致生长激素缺乏，早期生长激素干预可能是有益的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Growth factors 生物-内分泌学与代谢

CiteScore

2.60

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Growth Factors is an international and interdisciplinary vehicle publishing new knowledge and findings on the regulators of cell proliferation, differentiation and survival. The Journal will publish research papers, short communications and reviews on current developments in cell biology, biochemistry, physiology or pharmacology of growth factors, cytokines or hormones which improve our understanding of biology or medicine. Among the various fields of study topics of particular interest include: •Stem cell biology •Growth factor physiology •Structure-activity relationships •Drug development studies •Clinical applications