Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.
Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.
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面部特征：直接诊断中国颌面综合征患者22q11.2缺失的关键指标
DOI：
10.1371/journal.pone.0054404
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Wang G
中科院分区：
文献类型：
--
作者：
Wu D;Chen Y;Xu C;Wang K;Wang H;Zheng F;Ma D;Wang G
VCFS是一种表型广泛、遗传机制多样的疾病，主要与22q11.2或其他染色体上的拷贝数变异(CNV)有关。然而，CNV和表型之间的相关性仍然不明确。本研究旨在分析VCFS患者CNV的类型和大小，以明确CNV与中国VCFS患者临床表现之间是否存在相关性。应用多重连接依赖探针扩增技术(MLPA)对55例临床疑似VCFS患者和100例正常对照进行检测。记录和分析来自MLPA的数据和所有对象的详细临床特征。共有44例患者(80.0%)在22q11.2被诊断为CNV。其中43例(78.2%)存在22q11.2杂合性缺失，其中典型3-Mb缺失40例(93.0%)，近端1.5-Mb缺失3例(7.0%)，未发现22q11.2杂合性缺失。1例患者(1.8%)在22q11.2的典型3-Mb区域有3-Mb重复图谱，其余11例患者和100名正常对照均未发现MLPA试剂盒中的染色体异常。43例22q11.2缺失的患者均有特征性的面部和腭部异常，其中37例(86.0%)有认知或行为障碍，23例(53.5%)有免疫缺陷，10例(23.3%)有先天性心脏病。有趣的是，所有面部特征的患者都有22q11.2杂合子缺失，但3-Mb和1.5-Mb缺失之间的表型谱没有差异。我们的数据表明，面部特征可以作为直接诊断中国人VCFS患者22q11.2缺失的关键指标。
Velocardiofacial syndrome (VCFS) is a disease in human with an expansive phenotypic spectrum and diverse genetic mechanisms mainly associated with copy number variations (CNVs) on 22q11.2 or other chromosomes. However, the correlations between CNVs and phenotypes remain ambiguous. This study aims to analyze the types and sizes of CNVs in VCFS patients, to define whether correlations exist between CNVs and clinical manifestations in Chinese VCFS patients. In total, 55 clinically suspected Chinese VCFS patients and 100 normal controls were detected by multiplex ligation-dependent probe amplification (MLPA). The data from MLPA and all the detailed clinical features of the objects were documented and analyzed. A total of 44 patients (80.0%) were diagnosed with CNVs on 22q11.2. Among them, 43 (78.2%) presented with 22q11.2 heterozygous deletions, of whom 40 (93.0%) had typical 3-Mb deletion, and 3 (7.0%) exhibited proximal 1.5-Mb deletion; no patient was found with atypical deletion on 22q11.2. One patient (1.8%) presented with a 3-Mb duplication mapping to the typical 3-Mb region on 22q11.2, while none of the chromosomal abnormalities in the MLPA kit were found in the other 11 patients and 100 normal controls. All the 43 patients with 22q11.2 deletions displayed characteristic face and palatal anomalies; 37 of them (86.0%) had cognitive or behavioral disorders, and 23 (53.5%) suffered from immune deficiencies; 10 patients (23.3%) manifested congenital heart diseases. Interestingly, all patients with the characteristic face had 22q11.2 heterozygous deletions, but no difference in phenotypic spectrum was observed between 3-Mb and 1.5-Mb deletions. Our data suggest that the characteristic face can be used as a key indicator for direct diagnosis of 22q11.2 deletions in Chinese VCFS patients.
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DOI：
10.1597/09-009.1
发表时间：
2010-05
期刊：
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
影响因子：
--
作者：
Looman WS;Thurmes AK;O'Conner-Von SK
通讯作者：
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影响因子：
2
作者：
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影响因子：
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作者：
Bassett, AS;Chow, EWC;Gatzoulis, MA
通讯作者：
Gatzoulis, MA
影响因子：
1.9
作者：
Lundin, Johanna;Soderhall, Cilla;Nordenskjold, Agneta
通讯作者：
Nordenskjold, Agneta
DOI：
10.1073/pnas.0600206103
发表时间：
2006-05-16
影响因子：
11.1
作者：
Paylor, Richard;Glaser, Beate;Lindsay, Elizabeth
通讯作者：
Lindsay, Elizabeth