Identification of three novel NHS mutations in families with Nance-Horan syndrome

Molecular Vision

Volumn 13, Issue , 2007, Pages 470-474

  Huang, Kristen M ^a   Wu, Junhua ^a   Brooks, Simon P ^b   Hardcastle, Alison J ^b   Lewis, Richard Alan ^c   Stambolian, Dwight ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c CULLEN EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

AMPLICON; ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; CORNEA DISEASE; DNA ISOLATION; FAMILY STUDY; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENOTYPE; HUMAN; HUMAN CELL; LEUKOCYTE; MICROPHTHALMIA; NANCE HORAN SYNDROME; NORTH AMERICA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; TOOTH MALFORMATION; X CHROMOSOME LINKED DISORDER;

AMINO ACID SEQUENCE; BASE SEQUENCE; CATARACT; CODON, NONSENSE; CODON, TERMINATOR; EXONS; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; MALE; MICROPHTHALMOS; NUCLEAR PROTEINS; SYNDROME; TOOTH ABNORMALITIES;

EID: 33947644769     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Nance WE, Warburg M, Bixler D, Helveston EM. Congenital Xlinked cataract, dental anomalies and brachymetacarpalia. Birth Defects Orig Artic Ser 1974; 10:285-91.
2. Horan M, Billson F. X-linked cataract and hutchinsonian teeth. Aust Paediatr J. 1974; 10:98-102.
3. Walpole IR, Hockey A, Nicoll A. The Nance-Horan syndrome. J Med Genet 1990; 27:632-4.
4. Toutain A, Ayrault AD, Moraine C. Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families. Am J Med Genet 1997; 71:305-14.
5. Stambolian D, Lewis RA, Buetow K, Bond A, Nussbaum R. Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. Am J Hum Genet 1990; 47:13-9.
6. Lewis RA. Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome. Trans Am Ophthalmol Soc 1989; 87:658-728.
7. Zhu D, Alcorn DM, Antonarakis SE, Levin LS, Huang PC, Mitchell TN, Warren AC, Maumenee IH. Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. Hum Genet 1990; 86:54-8.
8. Stambolian D, Favor J, Silvers W, Avner P, Chapman V, Zhou E. Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome. Genomics 1994; 22:377-80.
9. Toutain A, Ronce N, Dessay B, Robb L, Francannet C, Le Merrer M, Briard ML, Kaplan J, Moraine C. Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region. Hum Genet 1997; 99:256-61.
10. Toutain A, Dessay B, Ronce N, Ferrante MI, Tranchemontagne J, Newbury-Ecob R, Wallgren-Pettersson C, Burn J, Kaplan J, Rossi A, Russo S, Walpole I, Hartsfield JK, Oyen N, Nemeth A, Bitoun P, Trump D, Moraine C, Franco B. Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes. Eur J Hum Genet 2002; 10:516-20.
11. Francis PJ, Berry V, Hardcastle AJ, Maher ER, Moore AT, Bhattacharya SS. A locus for isolated cataract on human Xp. J Med Genet 2002; 39:105-9.
12. Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gecz J, Craig JE. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. Am J Hum Genet 2003; 73:1120-30.
13. Brooks SP, Ebenezer ND, Poopalasundaram S, Lehmann OJ, Moore AT, Hardcastle AJ. Identification of the gene for Nance-Horan syndrome (NHS). J Med Genet 2004; 41:768-71.
14. Ramprasad VL, Thool A, Murugan S, Nancarrow D, Vyas P, Rao SK, Vidhya A, Ravishankar K, Kumaramanickavel G. Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family. Invest Ophthalmol Vis Sci 2005; 46:17-23.
15. Florijn RJ, Loves W, Maillette de Buy Wenniger-Prick LJ, Mannens MM, Tijmes N, Brooks SP, Hardcastle AJ, Bergen AA. New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands. Eur J Hum Genet 2006; 14:986-90.
16. Lewis RA, Nussbaum RL, Stambolian D. Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3. Ophthalmology 1990; 97:110-20; discussion120-1.
17. Krill AE, Woodbury G, Bowman JE. X-chromosomal-linked sutural cataracts. Am J Ophthalmol 1969; 68:867-72.
18. Wilson JM, Baugher BW, Mattes PM, Daddona PE, Kelley WN. Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme. J Clin Invest 1982; 69:706-15.
19. Sharma S, Ang SL, Shaw M, Mackey DA, Gecz J, McAvoy JW, Craig JE. Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. Hum Mol Genet 2006; 15:1972-83.
20. Huang KM, Wu J, Duncan MK, Moy C, Dutra A, Favor J, Da T, Stambolian D. Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform. Hum Mol Genet 2006; 15:319-27.