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Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

journal contribution
posted on 2023-05-16, 14:40 authored by Kathryn BurdonKathryn Burdon, McKay, JD, Sale, MM, Russell-Eggitt, IM, David MackeyDavid Mackey, Wirth, MG, Elder, JE, Nicoll, A, Clarke, MP, Liesel FitzgeraldLiesel Fitzgerald, Jim StankovichJim Stankovich, Shaw, MA, Sarma, S, Gajovic, S, Gruss, P, Ross, S, Thomas, P, Voss, AK, Thomas, T, Gecz, J, Jamie CraigJamie Craig
Nance-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 ∼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.


Publication title

American Journal of Human Genetics










Menzies Institute for Medical Research


University Chicago Press

Place of publication

Chicago, USA

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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