Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1.

Korean Journal of Pediatrics Pub Date : 2019-02-01 Epub Date: 2018-09-23 DOI:10.3345/kjp.2018.06919
Hyeong Jung Kim, Ji-Hoon Na, Young-Mock Lee
{"title":"Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1.","authors":"Hyeong Jung Kim,&nbsp;Ji-Hoon Na,&nbsp;Young-Mock Lee","doi":"10.3345/kjp.2018.06919","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK ) gene. Our study aimed to determine whether the age of onset is correlated with CTG repeat length in a population of pediatric patients with DM1.</p><p><strong>Methods: </strong>We retrospectively identified 30 pediatric patients with DM1 that underwent DMPK testing, of which the clinical data of 17 was sufficient. The cohort was divided into 2 subgroups based on the clinical phenotype (congenital-onset vs. late-onset) and number of CTG repeats (<1,000 vs. ≥1,000).</p><p><strong>Results: </strong>We found no significant difference between the age of onset and CTG repeat length in our pediatric patient population. Based on clinical subgrouping, we found that the congenital-onset subgroup was statistically different with respect to several variables, including prematurity, rate of admission to neonatal intensive care unit, need for respiratory support at birth, hypotonia, dysphagia, ventilator dependence, and functional status on last visit, compared to the late-onset subgroup. Based on genetic subgrouping, we found a single variable (poor feeding in neonate) that was significantly different in the large CTG subgroup than that in the small CTG subgroup.</p><p><strong>Conclusion: </strong>Clinical variables exhibiting statistically significant differences between the subgroups should be focused on prognosis and designing tailored management approaches for the patients; our findings will contribute to achieve this important goal for treating patients with DM1.</p>","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 2","pages":"55-61"},"PeriodicalIF":0.0000,"publicationDate":"2019-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/28/cb/kjp-2018-06919.PMC6382962.pdf","citationCount":"5","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Korean Journal of Pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3345/kjp.2018.06919","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2018/9/23 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 5

Abstract

Purpose: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK ) gene. Our study aimed to determine whether the age of onset is correlated with CTG repeat length in a population of pediatric patients with DM1.

Methods: We retrospectively identified 30 pediatric patients with DM1 that underwent DMPK testing, of which the clinical data of 17 was sufficient. The cohort was divided into 2 subgroups based on the clinical phenotype (congenital-onset vs. late-onset) and number of CTG repeats (<1,000 vs. ≥1,000).

Results: We found no significant difference between the age of onset and CTG repeat length in our pediatric patient population. Based on clinical subgrouping, we found that the congenital-onset subgroup was statistically different with respect to several variables, including prematurity, rate of admission to neonatal intensive care unit, need for respiratory support at birth, hypotonia, dysphagia, ventilator dependence, and functional status on last visit, compared to the late-onset subgroup. Based on genetic subgrouping, we found a single variable (poor feeding in neonate) that was significantly different in the large CTG subgroup than that in the small CTG subgroup.

Conclusion: Clinical variables exhibiting statistically significant differences between the subgroups should be focused on prognosis and designing tailored management approaches for the patients; our findings will contribute to achieve this important goal for treating patients with DM1.

Abstract Image

小儿1型肌强直性营养不良患者的基因型-表型相关性。
目的:肌强直性营养不良,也称为肌强直性营养不良(DM),是一种常染色体显性遗传病,有两种不同的遗传形式。糖尿病1型(DM1)是更常见的形式,是由糖尿病蛋白激酶(DMPK)基因中胞嘧啶/胸腺嘧啶/鸟嘌呤(CTG)重复序列异常扩增引起的。我们的研究旨在确定DM1儿童患者的发病年龄是否与CTG重复序列长度相关。方法:回顾性分析30例接受DMPK检测的儿童DM1患者,其中17例临床资料充分。根据临床表型(先天性与迟发性)和CTG重复次数将队列分为2个亚组(结果:我们发现在我们的儿科患者人群中,发病年龄和CTG重复长度之间没有显著差异。基于临床亚组,我们发现先天性亚组与迟发性亚组相比,在几个变量方面存在统计学差异,包括早产、新生儿重症监护病房入院率、出生时呼吸支持需求、张力低下、吞咽困难、呼吸机依赖和最后一次访问时的功能状态。基于遗传亚组,我们发现一个单一变量(新生儿喂养不良)在大CTG亚组中与小CTG亚组中有显著差异。结论:亚组间有统计学差异的临床变量应关注预后,为患者设计有针对性的治疗方案;我们的发现将有助于实现治疗DM1患者的这一重要目标。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
审稿时长
12 weeks
期刊介绍: Korean J Pediatr covers clinical and research works relevant to all aspects of child healthcare. The journal aims to serve pediatricians through the prompt publication of significant advances in any field of pediatrics and to rapidly disseminate recently updated knowledge to the public. Additionally, it will initiate dynamic, international, academic discussions concerning the major topics related to pediatrics. Manuscripts are categorized as review articles, original articles, and case reports. Areas of specific interest include: Growth and development, Neonatology, Pediatric neurology, Pediatric nephrology, Pediatric endocrinology, Pediatric cardiology, Pediatric allergy, Pediatric pulmonology, Pediatric infectious diseases, Pediatric immunology, Pediatric hemato-oncology, Pediatric gastroenterology, Nutrition, Human genetics, Metabolic diseases, Adolescence medicine, General pediatrics.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信