کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2814327 | 1569523 | 2010 | 5 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL](/preview/png/2814327.png)
Cornelia de Lange syndrome (CdLS) is a rare multisystem congenital anomaly disorder characterized by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. Approximately 60–65% of the CdLS subjects have mutation in one of three cohesin proteins, a main regulator of cohesin-associated protein, NIPBL, and two components of the cohesin ring structure SMC1A and SMC3. A prominent role for cohesin is to control chromosome segregation during cell divisions. We have performed MLPA analysis in a group of 11 children with the CdLS but without identifiable point mutations in the NIPBL and SMC1A genes. In a single patient, we identified a large deletion encompassing exons 35 to 47 of the NIPBL gene. Our finding was validated by aCGH and further characterized by long-range PCR and DNA sequencing of the breakpoint junction.
Journal: European Journal of Medical Genetics - Volume 53, Issue 6, November–December 2010, Pages 378–382