一例KMT2A基因新发错义变异的Wiedemann-Steiner综合征患儿的诊断方法——一例报告。

IF 1.3 4区 医学 Q4 ENVIRONMENTAL SCIENCES
Gabriela Ręka, Katarzyna Wojciechowska, Monika Lejman
{"title":"一例KMT2A基因新发错义变异的Wiedemann-Steiner综合征患儿的诊断方法——一例报告。","authors":"Gabriela Ręka,&nbsp;Katarzyna Wojciechowska,&nbsp;Monika Lejman","doi":"10.26444/aaem/163063","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Wiedemann-Steiner syndrome is caused by mutations in the KMT2A gene (11q23.3). It might be inherited autosomal dominant or appear de novo. Features described in the syndrome include developmental delay, short stature, hypotonia, hypertrichosis, facial dysmorphic features, and intellectual disability.</p><p><strong>Case report: </strong>A boy aged 5.5 months was admitted to the Genetics Outpatient Clinic due to delayed psychomotor development. Microsomia, hypotonia, joint laxity, and facial dysmorphic features were noticed. No genomic imbalance was found in microarray, based on comparative genomic hybridization. The c.3528G>T variant of the KMT2A gene was identified on chromosome 11 of the missense type in next-generation sequencing. The reasons for phenotypic features were confirmed in genetic research.</p><p><strong>Conclusions: </strong>Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.</p>","PeriodicalId":50970,"journal":{"name":"Annals of Agricultural and Environmental Medicine","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2023-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report.\",\"authors\":\"Gabriela Ręka,&nbsp;Katarzyna Wojciechowska,&nbsp;Monika Lejman\",\"doi\":\"10.26444/aaem/163063\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Wiedemann-Steiner syndrome is caused by mutations in the KMT2A gene (11q23.3). It might be inherited autosomal dominant or appear de novo. Features described in the syndrome include developmental delay, short stature, hypotonia, hypertrichosis, facial dysmorphic features, and intellectual disability.</p><p><strong>Case report: </strong>A boy aged 5.5 months was admitted to the Genetics Outpatient Clinic due to delayed psychomotor development. Microsomia, hypotonia, joint laxity, and facial dysmorphic features were noticed. No genomic imbalance was found in microarray, based on comparative genomic hybridization. The c.3528G>T variant of the KMT2A gene was identified on chromosome 11 of the missense type in next-generation sequencing. The reasons for phenotypic features were confirmed in genetic research.</p><p><strong>Conclusions: </strong>Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.</p>\",\"PeriodicalId\":50970,\"journal\":{\"name\":\"Annals of Agricultural and Environmental Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2023-09-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Agricultural and Environmental Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.26444/aaem/163063\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/5/8 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"ENVIRONMENTAL SCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Agricultural and Environmental Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.26444/aaem/163063","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/5/8 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"ENVIRONMENTAL SCIENCES","Score":null,"Total":0}
引用次数: 0

摘要

引言:Wiedemann-Steiner综合征是由KMT2A基因(11q23.3)突变引起的。它可能是常染色体显性遗传或新发。该综合征的特征包括发育迟缓、身材矮小、张力减退、多毛、面部畸形和智力残疾。病例报告:一名5.5个月大的男孩因精神运动发育迟缓而住进遗传学门诊。观察到有小眼、张力减退、关节松弛和面部畸形特征。基于比较基因组杂交,在微阵列中没有发现基因组失衡。在下一代测序中,KMT2A基因的c.3528G>T变体在11号染色体上被鉴定为错义型。表型特征的原因已在遗传学研究中得到证实。结论:Wiedemann-Steiner综合征具有多变的临床表型。强烈需要注意可能提示该综合征的表型特征,并将患者转诊进行适当的遗传诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report.

Introduction: Wiedemann-Steiner syndrome is caused by mutations in the KMT2A gene (11q23.3). It might be inherited autosomal dominant or appear de novo. Features described in the syndrome include developmental delay, short stature, hypotonia, hypertrichosis, facial dysmorphic features, and intellectual disability.

Case report: A boy aged 5.5 months was admitted to the Genetics Outpatient Clinic due to delayed psychomotor development. Microsomia, hypotonia, joint laxity, and facial dysmorphic features were noticed. No genomic imbalance was found in microarray, based on comparative genomic hybridization. The c.3528G>T variant of the KMT2A gene was identified on chromosome 11 of the missense type in next-generation sequencing. The reasons for phenotypic features were confirmed in genetic research.

Conclusions: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Annals of Agricultural and Environmental Medicine
Annals of Agricultural and Environmental Medicine 医学-公共卫生、环境卫生与职业卫生
CiteScore
3.00
自引率
5.90%
发文量
58
审稿时长
4-8 weeks
期刊介绍: All papers within the scope indicated by the following sections of the journal may be submitted: Biological agents posing occupational risk in agriculture, forestry, food industry and wood industry and diseases caused by these agents (zoonoses, allergic and immunotoxic diseases). Health effects of chemical pollutants in agricultural areas , including occupational and non-occupational effects of agricultural chemicals (pesticides, fertilizers) and effects of industrial disposal (heavy metals, sulphur, etc.) contaminating the atmosphere, soil and water. Exposure to physical hazards associated with the use of machinery in agriculture and forestry: noise, vibration, dust. Prevention of occupational diseases in agriculture, forestry, food industry and wood industry. Work-related accidents and injuries in agriculture, forestry, food industry and wood industry: incidence, causes, social aspects and prevention. State of the health of rural communities depending on various factors: social factors, accessibility of medical care, etc.
×
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