Purchase this article with an account.
R.J. Florijn, W. Loves, L.J. J. M. Maillette de Buy Wenniger – Prick, M.A. Mannens, N. Tymes, S.P. Brooks, A.J. Hardcastle, A.A. B. Bergen; New Mutations in the NHS Gene in Nance–Horan Syndrome Families from the Netherlands . Invest. Ophthalmol. Vis. Sci. 2006;47(13):4623.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
We screened for mutations in the NHS gene, which causes Nance–Horan Syndrome (NHS), a rare X–chromosomal recessive disorder with variable features, including congenital cataract, microphthalmia, a peculiar form of the ear, and dental anomalies.
We investigated the NHS gene in four additional families with Nance–Horan syndrome from The Netherlands, by dHPLC and direct sequencing.
We identified in each family a unique mutation, including three not reported before.
We report here the first splice site defect and three protein truncating mutations. Our results suggest that X–linked cataract and Nance Horan Syndrome are allelic disorders.
This PDF is available to Subscribers Only