A novel de novo mutation of the Nipped-B-like gene in an isolated Chinese patient with Cornelia de Lange syndrome
文献类型：期刊论文
| 刊名 | CHINESE MEDICAL JOURNAL
 |
| 出版日期 | 2013 |
| 卷号 | 126 |
| 关键词 | NIPBL Nipped-B-like gene Cornelia de Lange syndrome de novo mutation |
| ISSN号 | 0366-6999 |
| 其他题名 | A novel de novo mutation of the Nipped-B-like gene in an isolated Chinese patient with Cornelia de Lange syndrome |
| 英文摘要 | Cornelia de Lange syndrome (CdLS; OMIM: 122470) is characterized by distinctive facial features, growth retardation, hirsutism, and upper limb reduction defects. Craniofacial features manifest as synophrys, arched eyebrows, long thick eyelashes, a small upturned nose, small widely-spaced teeth, and microcephaly. The intelligence quotient (IQ) is usually below the normal level. More phenotypes are frequently found, such as cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia. Some individuals suffering from milder forms of CdLS have less severe growth, cognitive, and limb involvement, but often have typical facial features. The prevalence of CdLS is estimated to be 1.6 to 2.2/100 000 live births, without racial variation. Most cases are sporadic, and very few familial cases have been reported. Approximately 50%-60% of CdLS cases are caused by mutations in the Nipped-B-like (NIPBL) gene, which encode two isoform products termed delangin-A and delangin-B. Mutations in the Structural Maintenance of Chromosomes 1A (SMC1A) and 3 (SMC3) genes account for ~5% of CdLS cases and have been shown to cause a consistently mild phenotype. All three genes encode components of the sister chromatid cohesin complex. A diagnosis of CdLS is based on not only clinical findings, but also molecular genetic testing. Here, we report the first molecular analysis of a young patient diagnosed with CdLS in China. |
| 语种 | 英语 |
| CSCD记录号 | CSCD:4724009 |
| 源URL | [http://ir.hfcas.ac.cn:8080/handle/334002/59012]  |
| 专题 | 中国科学院合肥物质科学研究院 |
| 推荐引用方式 GB/T 7714 | . A novel de novo mutation of the Nipped-B-like gene in an isolated Chinese patient with Cornelia de Lange syndrome[J]. CHINESE MEDICAL JOURNAL,2013,126. |
| APA | (2013).A novel de novo mutation of the Nipped-B-like gene in an isolated Chinese patient with Cornelia de Lange syndrome.CHINESE MEDICAL JOURNAL,126. |
| MLA | "A novel de novo mutation of the Nipped-B-like gene in an isolated Chinese patient with Cornelia de Lange syndrome".CHINESE MEDICAL JOURNAL 126(2013). |
入库方式： OAI收割
来源：合肥物质科学研究院
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