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Gene Review

NIPBL  -  Nipped-B homolog (Drosophila)

Homo sapiens

Synonyms: CDLS, CDLS1, DKFZp434L1319, Delangin, FLJ11203, ...
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Disease relevance of NIPBL


Psychiatry related information on NIPBL


High impact information on NIPBL

  • CdLS individuals were recently shown to have heterozygous mutations in a previously uncharacterised gene, NIPBL, which encodes delangin, a homologue of fungal Scc2-type sister chromatid cohesion proteins and the Drosophila Nipped-B developmental regulator [3].
  • Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively [4].
  • Here we report direct observations of mitotic progression in individual HeLa cells after functional disruptions of hRad21, NIPBL, a loading factor for hRad21, and topo II alpha,beta by RNAi and a topo II inhibitor, ICRF-193 [5].
  • About 50% of CdLS patients have been found to have heterozygous mutations in the NIPBL gene and a few cases were recently found to be caused by mutations in the X-linked SMC1L1 gene [6].
  • We performed a mutation screening of all NIPBL coding exons by direct sequencing in 11 patients (nine sporadic and two familial cases) diagnosed with CdLS in Sweden and detected mutations in seven of the cases [6].

Biological context of NIPBL


Anatomical context of NIPBL

  • Using real-time quantitative PCR, we showed that NIPBL mRNA expression was lowered in patients' lymphocytes compared to control samples [12].

Analytical, diagnostic and therapeutic context of NIPBL

  • METHODS: Nipped-B-like (NIPBL) gene mutations were screened using in denaturing high-performance liquid chromatography and sequencing in peripheral blood samples, from one of the affected siblings and her parents, as well as from a sperm sample from the father [13].


  1. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Gillis, L.A., McCallum, J., Kaur, M., DeScipio, C., Yaeger, D., Mariani, A., Kline, A.D., Li, H.H., Devoto, M., Jackson, L.G., Krantz, I.D. Am. J. Hum. Genet. (2004) [Pubmed]
  2. Ophthalmologic findings in the Cornelia de Lange Syndrome. Wygnanski-Jaffe, T., Shin, J., Perruzza, E., Abdolell, M., Jackson, L.G., Levin, A.V. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus. (2005) [Pubmed]
  3. Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. Strachan, T. Curr. Opin. Genet. Dev. (2005) [Pubmed]
  4. Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation. Deardorff, M.A., Kaur, M., Yaeger, D., Rampuria, A., Korolev, S., Pie, J., Gil-Rodriguez, C., Arnedo, M., Loeys, B., Kline, A.D., Wilson, M., Lillquist, K., Siu, V., Ramos, F.J., Musio, A., Jackson, L.S., Dorsett, D., Krantz, I.D. Am. J. Hum. Genet. (2007) [Pubmed]
  5. Coordinated Requirements of Human Topo II and Cohesin for Metaphase Centromere Alignment under Mad2-dependent Spindle Checkpoint Surveillance. Toyoda, Y., Yanagida, M. Mol. Biol. Cell (2006) [Pubmed]
  6. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. Schoumans, J., Wincent, J., Barbaro, M., Djureinovic, T., Maguire, P., Forsberg, L., Staaf, J., Thuresson, A.C., Borg, A., Nordgren, A., Malm, G., Anderlid, B.M. Eur. J. Hum. Genet. (2007) [Pubmed]
  7. The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. Lechner, M.S., Schultz, D.C., Negorev, D., Maul, G.G., Rauscher, F.J. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  8. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. Borck, G., Redon, R., Sanlaville, D., Rio, M., Prieur, M., Lyonnet, S., Vekemans, M., Carter, N.P., Munnich, A., Colleaux, L., Cormier-Daire, V. J. Med. Genet. (2004) [Pubmed]
  9. Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. Nallasamy, S., Kherani, F., Yaeger, D., McCallum, J., Kaur, M., Devoto, M., Jackson, L.G., Krantz, I.D., Young, T.L. Arch. Ophthalmol. (2006) [Pubmed]
  10. Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. Bhuiyan, Z.A., Klein, M., Hammond, P., van Haeringen, A., Mannens, M.M., Van Berckelaer-Onnes, I., Hennekam, R.C. J. Med. Genet. (2006) [Pubmed]
  11. Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. DeScipio, C., Kaur, M., Yaeger, D., Innis, J.W., Spinner, N.B., Jackson, L.G., Krantz, I.D. Am. J. Med. Genet. A (2005) [Pubmed]
  12. Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene. Borck, G., Zarhrate, M., Cluzeau, C., Bal, E., Bonnefont, J.P., Munnich, A., Cormier-Daire, V., Colleaux, L. Hum. Mutat. (2006) [Pubmed]
  13. Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome. Niu, D.M., Huang, J.Y., Li, H.Y., Liu, K.M., Wang, S.T., Chen, Y.J., Udaka, T., Izumi, K., Kosaki, K. Prenat. Diagn. (2006) [Pubmed]
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