Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Faculty of Medicine and Biomedical Sciences, University of Yaoundé 1, Yaoundé, Cameroon.
Glob Heart. 2017 Jun;12(2):115-120. doi: 10.1016/j.gheart.2017.01.003. Epub 2017 Mar 13.
The 22q11.2 deletion syndrome is amongst the most common microdeletion syndrome in humans. Its prevalence remains unknown in sub-Saharan Africa, and its clinical features are under-reported for people of African descent.
We have investigated the prevalence of the 22q11.2 deletion syndrome in patients with congenital heart defects in Cameroon.
A total of 70 of 100 cases of congenital cardiac malformation with echocardiographic evidence were examined prospectively and tested for the 22q11.2 deletion, using multiplex ligation-dependent probe amplification and fluorescence in situ hybridization.
Two of 70 patients (2.8%) were found to have 22q11.2 deletion. Both cases had conotruncal heart defects and exhibited extracardiac features of the 22q11.2 deletion syndrome that were either classical (e.g., puffy upper eyelids, bulbous tip of the nose) or less identifiable (telecanthus, hooding of eyelids and prominent nasal bridge).
The report shows that the prevalence of the 22q11.2 deletion syndrome in patients with heart malformations in Cameroon (2.8%) is similar to that of various world populations. The clinical phenotypes will contribute to the Global Atlas for dysmorphology. "Omics" technologies offer much promise in genetic/genomic screening of severe global health problems.
22q11.2 缺失综合征是人类中最常见的微缺失综合征之一。在撒哈拉以南非洲，其患病率尚不清楚，非洲裔人群的临床表现也报道较少。
我们调查了喀麦隆先天性心脏病患者中 22q11.2 缺失综合征的患病率。
对 100 例先天性心脏畸形中有超声心动图证据的 70 例患者进行前瞻性检查，并使用多重连接依赖性探针扩增和荧光原位杂交技术检测 22q11.2 缺失。
70 例患者中有 2 例（2.8%）发现存在 22q11.2 缺失。这两种情况都有圆锥干心脏病，表现出 22q11.2 缺失综合征的心脏外特征，既有经典的（如浮肿的上眼睑、球状鼻尖），也有不太明显的（眼距过宽、眼睑下垂和明显的鼻梁）。
该报告表明，喀麦隆心脏畸形患者中 22q11.2 缺失综合征的患病率（2.8%）与各种世界人群相似。临床表型将有助于全球发育异常图谱。“组学”技术在严重全球健康问题的遗传/基因组筛查方面有很大的应用前景。
