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

Homo sapiens

Synonyms: CTRCT40, CXN, Congenital cataracts and dental anomalies protein, Nance-Horan syndrome protein, SCML1
 
 
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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

References

  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]
 
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