The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

NHS  -  Nance-Horan syndrome (congenital cataracts...

Homo sapiens

Synonyms: CTRCT40, CXN, Congenital cataracts and dental anomalies protein, Nance-Horan syndrome protein, SCML1
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of NHS

  • Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, microphthalmia and/or microcornea, unusual dental morphology, dysmorphic facial features, and developmental delay in some cases [1].

Psychiatry related information on NHS


Biological context of NHS

  • Direct sequencing of the RAI2 gene and predicted promoter region has revealed no mutations in the families screened; RAI2 is therefore unlikely to be associated with NHS [1].
  • Multipoint linkage analysis determined the NHS locus to be linked completely to DXS41 (lod score = 7.07) [3].
  • We performed linkage analysis in three kindreds with NHS by using six RFLP markers between Xp11.3 and Xp22 [3].
  • The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus [2].
  • The clinical phenotype of the truncating mutation (Q39X) in the NHS gene suggests allelic heterogeneity at the NHS locus or the presence of modifier genes [4].

Anatomical context of NHS


Enzymatic interactions of NHS


Other interactions of NHS


  1. Exclusion of RAI2 as the causative gene for Nance-Horan syndrome. Walpole, S.M., Ronce, N., Grayson, C., Dessay, B., Yates, J.R., Trump, D., Toutain, A. Hum. Genet. (1999) [Pubmed]
  2. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. Burdon, K.P., McKay, J.D., Sale, M.M., Russell-Eggitt, I.M., Mackey, D.A., Wirth, M.G., Elder, J.E., Nicoll, A., Clarke, M.P., FitzGerald, L.M., Stankovich, J.M., Shaw, M.A., Sharma, S., Gajovic, S., Gruss, P., Ross, S., Thomas, P., Voss, A.K., Thomas, T., Gécz, J., Craig, J.E. Am. J. Hum. Genet. (2003) [Pubmed]
  3. Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. Stambolian, D., Lewis, R.A., Buetow, K., Bond, A., Nussbaum, R. Am. J. Hum. Genet. (1990) [Pubmed]
  4. Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family. Ramprasad, V.L., Thool, A., Murugan, S., Nancarrow, D., Vyas, P., Rao, S.K., Vidhya, A., Ravishankar, K., Kumaramanickavel, G. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  5. Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. Sharma, S., Ang, S.L., Shaw, M., Mackey, D.A., Gécz, J., McAvoy, J.W., Craig, J.E. Hum. Mol. Genet. (2006) [Pubmed]
  6. Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis. Franco, E., Hodgson, S., Lench, N., Roberts, G.J. Oral diseases. (1995) [Pubmed]
  7. Identification of the gene for Nance-Horan syndrome (NHS). Brooks, S.P., Ebenezer, N.D., Poopalasundaram, S., Lehmann, O.J., Moore, A.T., Hardcastle, A.J. J. Med. Genet. (2004) [Pubmed]
WikiGenes - Universities