巴西先天性心脏病患儿队列的22q11拷贝数变异

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2023-02-01 DOI:10.1159/000525247

Maiara A Floriani, Andressa S Santos, Bruna L Diniz, Andressa B Glaeser, Paulo R Gazzola Zen, Rafael F Machado Rosa

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引用次数: 1

摘要

导读:先天性心脏病(CHD)是最常见的先天性缺陷类型，据报道是生命第一年死亡的主要原因之一。微缺失和微重复综合征(MMS)与心脏畸形有关。了解与这些疾病有关的遗传因素直接影响治疗决策。我们的目的是确定遗传改变的发生及其与MMS在巴西南部的一个参考服务评估CHD儿童患者的关系。方法:2010年在一家儿科医院的重症监护病房招募参与者。采用SALSA MLPA Probemix P245微缺失综合征- 1a试剂盒筛选22号染色体的mm和区域，检测拷贝数变异(拷贝数变异)。结果:207例患者中检出MMS 11例(5.3%)。22q11.2染色体区域的杂合缺失是最常见的CNV(11例患者中有5例)。此外，检测到非典型RTDR1缺失和22q11.2重复。MLPA能够在正常核型和FISH患者中发现SNRPN和NF1基因的微缺失。结论:我们的研究报告了CHD儿童患者中与MMS相关的基因组改变的患病率和变异性。MLPA的结果对规划和专科护理有很大的帮助。

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22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders.

Introduction: Congenital heart disease (CHD) is the most common type of congenital defect reported to be one of the leading causes of mortality in the first year of life. Microdeletion and microduplication syndromes (MMS) are associated with cardiac malformations. Understanding which genetic factors are involved in these conditions directly impacts treatment decisions. We aimed to identify the occurrence of genetic alterations and their association with MMS in CHD pediatric patients evaluated in a reference service of Southern Brazil.

Methods: Participants were recruited during 2010 in the intensive care unit of a pediatric hospital. MMs and regions of chromosome 22 were screened by SALSA MLPA Probemix P245 Microdeletion Syndromes-1A kit for detection of copy number variations (CNVs).

Results: MMS were detected in 11 from 207 patients (5.3%). Heterozygous deletion in the 22q11.2 chromosome region was the most prevalent CNV (5 from 11 patients). Also, atypical RTDR1 deletion and 22q11.2 duplication were detected. MLPA was able to reveal microdeletions in SNRPN and NF1 genes in patients with a normal karyotype and FISH.

Conclusion: Our study reports the prevalence and variability of genomic alterations associated with MMS in CHD pediatric patients. The results by MLPA are of great help in planning and specialized care.

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.