Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation

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dc.contributor.authorBurdon, K.
dc.contributor.authorMcKay, J.
dc.contributor.authorSale, M.
dc.contributor.authorRussell-Eggitt, I.
dc.contributor.authorMackey, D.
dc.contributor.authorWirth, G.
dc.contributor.authorElder, J.
dc.contributor.authorNicoll, A.
dc.contributor.authorClarke, M.
dc.contributor.authorFitzGerald, L.
dc.contributor.authorStankovich, J.
dc.contributor.authorShaw, M.
dc.contributor.authorSharma, S.
dc.contributor.authorGajovic, S.
dc.contributor.authorGruss, P.
dc.contributor.authorRoss, S.
dc.contributor.authorThomas, P.
dc.contributor.authorVoss, A.
dc.contributor.authorThomas, T.
dc.contributor.authorGecz, J.
dc.contributor.authoret al.
dc.date.issued2003
dc.description.abstractNance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses approximately 650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. 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. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.
dc.description.statementofresponsibilityKathryn P. Burdon, James D. McKay, Michéle M. Sale, Isabelle M. Russell-Eggitt, David A. Mackey, M. Gabriela Wirth, James E. Elder, Alan Nicoll, Michael P. Clarke, Liesel M. FitzGerald, James M. Stankovich, Marie A. Shaw, Shiwani Sharma, Srecko Gajovic, Peter Gruss, Shelley Ross, Paul Thomas, Anne K. Voss, Tim Thomas, Jozef Gécz, and Jamie E. Craig
dc.identifier.citationAmerican Journal of Human Genetics, 2003; 73(5):1120-1130
dc.identifier.doi10.1086/379381
dc.identifier.issn0002-9297
dc.identifier.issn1537-6605
dc.identifier.orcidShaw, M. [0000-0002-5060-190X]
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.urihttp://hdl.handle.net/2440/6906
dc.language.isoen
dc.publisherUniv Chicago Press
dc.source.urihttps://doi.org/10.1086/379381
dc.subjectAnimals
dc.subjectHumans
dc.subjectMice
dc.subjectTooth Abnormalities
dc.subjectCataract
dc.subjectSyndrome
dc.subjectAbnormalities, Multiple
dc.subjectNuclear Proteins
dc.subjectGene Expression Profiling
dc.subjectPedigree
dc.subjectIn Situ Hybridization
dc.subjectPhenotype
dc.subjectMutation
dc.subjectIntrons
dc.subjectExons
dc.subjectGene Expression Regulation, Developmental
dc.subjectAmino Acid Sequence
dc.subjectMolecular Sequence Data
dc.subjectIntellectual Disability
dc.subjectRNA, Messenger
dc.subjectAustralia
dc.subjectFemale
dc.subjectMale
dc.titleMutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
dc.typeJournal article
pubs.publication-statusPublished

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