对患有发育迟缓/智力残疾并伴有多种先天性异常的卢旺达患者进行的阵列比较基因组杂交分析。
Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.
作者信息
Uwineza Annette, Caberg Jean-Hubert, Hitayezu Janvier, Hellin Anne Cecile, Jamar Mauricette, Dideberg Vinciane, Rusingiza Emmanuel K, Bours Vincent, Mutesa Leon
机构信息
Center for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda.
出版信息
BMC Med Genet. 2014 Jul 12;15:79. doi: 10.1186/1471-2350-15-79.
BACKGROUND
Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa.
METHODS
Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent's 180 K microarray platform.
RESULTS
Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances.
CONCLUSION
This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries.
背景
阵列比较基因组杂交（Array-CGH）被视为用于识别拷贝数变异的一线检测方法。目前，关于东非发育迟缓/智力残疾和先天性畸形患者的遗传病因尚无可用数据。
方法
使用安捷伦180K微阵列平台，对50名患有发育迟缓/智力残疾和多种先天性异常的卢旺达患者进行了阵列比较基因组杂交。
结果
14名患者（28%）存在全面发育迟缓，而36名患者（72%）有智力残疾。所有患者均有多种先天性异常。13名患者（26%）发现了具有临床意义的拷贝数变异。拷贝数变异的大小范围为0.9Mb至34Mb。6名患者的拷贝数变异与已知综合征相关，而7名患者存在罕见的基因组失衡。
结论
本研究表明非洲人群中存在拷贝数变异，并显示了在东非国家开展基因检测工作的重要性。
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