2003
DOI: 10.1086/379381
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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

Abstract: 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 approximately 650 kb of genomic DNA, coding for a 1,630-amino a… Show more

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Cited by 110 publications
(136 citation statements)
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“…4,[13][14][15][16][17][18] Our present study revealed, for the first time, a missense mutation in NHS genes' exon 6 identified in the three studied brothers and a reported SNP was revealed in the same exon. We identified also two other variations in exon 8: a novel UTR-SNP in 3¢-UTR, which is predicted to be specific to the Tunisian population and a reported one.…”
Section: Introductionmentioning
confidence: 70%
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“…4,[13][14][15][16][17][18] Our present study revealed, for the first time, a missense mutation in NHS genes' exon 6 identified in the three studied brothers and a reported SNP was revealed in the same exon. We identified also two other variations in exon 8: a novel UTR-SNP in 3¢-UTR, which is predicted to be specific to the Tunisian population and a reported one.…”
Section: Introductionmentioning
confidence: 70%
“…It has been demonstrated that NHS protein is expressed in midbrain, lens, tooth and retina. 4 The fact that the NHS gene is highly conserved across vertebrate species supports the vital role of the gene in development. 4 This is the first report of a missense mutation (p.P551S) identified in protein NHS.…”
Section: Discussionmentioning
confidence: 99%
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