מידע

NIPBL


NIPBL

The NIPBL gene codes for a protein which is part of the regulatory centre of cohesin and, along with another gene (MAU2) helps the ring to be loaded onto the duplicated DNA. Changes (mutations) in NIPBL can be found in approximately 70% of individuals with CdLS. Classic CdLS is usually caused by changes in NIPBL (13,14). The missense mutations (single small mutations) cause milder phenotypes than the loss of function mutations, as described here . Deletions may occur in NIPBL in about 3% of those with CdLS. Also, there are quite a few people with classic CdLS who have been found to have mosaicism for mutations in NIPBL, which means that not all of the cells tested show the mutation (e.g. the mutation is unable to be found in a blood sample, but can be detected on a cheek swab which takes cells from the inside of the cheek.

While individuals with the classic CdLS phenotype are likely to have changes in NIPBL, individuals with changes in the other causative CdLS genes can also fulfil the criteria for classic CdLS.

מצא דפים אחרים שחולקים את אותו נושא כמו דף זה NIPBL4 NIPBL1
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).

היסטוריית הדף
Last modified by Gerritjan Koekkoek on 2022/09/29 16:10
Created by Gerritjan Koekkoek on 2019/03/27 15:09

About the website contents

All of the information on this WebSite is for education purposes only. The place to get specific medical advice, diagnoses, and treatment is your doctor. Use of this site is strictly at your own risk. If you find something that you think needs correction or clarification, please let us know at: 

Send a email: info@cdlsWorld.org