Clinical and genetic findings in patients with congenital cataract and heart diseases.
Clinical and genetic findings in patients with congenital cataract and heart diseases.
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先天性白内障和心脏病患者的临床和遗传学发现
DOI：
10.1186/s13023-021-01873-7
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发表时间：
2021-05-31
影响因子：
3.7
通讯作者：
Xiao W
中科院分区：
文献类型：
--
作者：
Li X;Si N;Song Z;Ren Y;Xiao W
研究背景先天性白内障（Congenital Cataract，CC）和先天性心脏病（Congenital Heart Disease，CHD）是重要的出生缺陷.在临床实践中，经常观察到CC和CHD的并发症。此外，一些单基因疾病、拷贝数变异（CNV）综合征和与宫内感染相关的疾病涉及白内障和心脏缺陷。然而，关于CC和CHD之间的关联知之甚少。在这里，我们的特点与CC和heartdefects.MethodsMedical记录为334例诊断为CC住院患者的人口，临床和遗传特征进行了审查。比较CC合并和不合并CHD患者的人口统计学和临床特征。使用Ensembl Resources（DECIPHER）从人类染色体不平衡和表型数据库中审查了“白内障”和“心脏缺陷”患者的临床和基因组信息。在10个CC和CHD三人组家庭中进行基于微阵列的比较基因组杂交和全外显子组测序，以检测从头基因组改变，包括拷贝数变异和单核苷酸变化。（41.13%）合并冠心病（包括超声心动图检查为左向右分流的非冠心病）。合并冠心病组早产和唐氏综合征的发生率高于无冠心病组。房间隔缺损是最常见的心脏缺损。从人类染色体不平衡和表型数据库中使用EnsemblResources（DECIPHER）检索了44例白内障和心脏病病例。总共报告了52个基因组变异，其中44%是从头生殖系变异。在10个三人组与CC和CHD的家庭，我们发现了新的CNVs负责两个众所周知的染色体疾病，并确定了一个新的致病性突变inGJA8负责CC.ConclusionsWe观察到显着的关联CHD和CC在我们的10年的患者队列。基于队列和DECIPHER的数据，一些患者的发育综合征是由于遗传缺陷，从而解释了CC和CHD的并发症。此外，我们检测到新生突变是白内障的独立原因。我们的研究结果表明，在CC患者的发育综合征值得更多的关注，在临床实践中的眼科医生。
BackgroundCongenital cataract (CC) and congenital heart disease (CHD) are significant birth defects. In clinical practice, the concurrence of CC and CHD is frequently observed in patients. Additionally, some monogenic diseases, copy number variation (CNV) syndromes, and diseases associated with intrauterine infection involve both cataract and heart defects. However, little is known about the association between CC and CHD. Here, we characterised the demographic, clinical, and genetic features of patients with CC and heart defects.MethodsMedical records for 334 hospitalised patients diagnosed with CC were reviewed. Demographic and clinical features of patients with CC with and without CHD were compared. Clinical and genomic information for patients with ‘cataract’ and ‘cardiac defects’ were reviewed from Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER). Microarray-based comparative genomic hybridisation and whole-exome sequencing were performed in 10 trio families with CC and CHD to detect de novo genomic alterations, including copy number variants and single nucleotide changes.ResultsIn a retrospective analysis of 334 patients with CC over the past 10 years at our hospital, we observed a high proportion of patients (41.13%) with CHD (including innocent CHD, which reported as left-to-right shunt in echocardiography test). The CC with CHD group had higher incidences of preterm birth and Down’s syndrome than the CC without CHD group. Atrial septal defect was the most frequent heart defect. A total of 44 cases with cataracts and heart diseases were retrieved from Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER). In total, 52 genomic alterations were reported, 44% of which were de novo germline variants. In the 10 trio families with CC and CHD, we found de novo CNVs responsible for two well-known chromosomal disorders and identified a novel pathogenic mutation inGJA8responsible for CC.ConclusionsWe observed significant associations between CHD and CC in our 10-year patient cohort. Based on the cohort and data from DECIPHER, developmental syndromes in some patients were due to genetic defects, thus explaining the concurrence of CC and CHD. Additionally, we detected de novo mutations as an independent cause of cataracts. Our findings suggest that developmental syndromes in patients with CC deserve more attention in clinical practice by ophthalmologists.
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