Literature DB >> 1971992

Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.

D Stambolian1, R A Lewis, K Buetow, A Bond, R Nussbaum.   

Abstract

Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome (MIM 302350) is a disease of unknown pathogenesis characterized by congenital cataracts and dental anomalies. We performed linkage analysis in three kindreds with NHS by using six RFLP markers between Xp11.3 and Xp22.3. Close linkage was found between NHS and polymorphic loci DXS43 (theta = 0 with lod score 2.89), DXS41 (theta = 0 with lod score 3.44), and DXS67 (theta = 0 with lod score 2.74), defined by probes pD2, p99-6, and pB24, respectively. Recombinations were found with the marker loci DXS84 (theta = .04 with lod score 4.13), DXS143 (theta = .06 with lod score 3.11) and DXS7 (theta = .09 with lod score 1.68). Multipoint linkage analysis determined the NHS locus to be linked completely to DXS41 (lod score = 7.07). Our linkage results, combined with analysis of Xp interstitial deletions, suggest that the NHS locus is located within or close to the Xp22.1-Xp22.2 region.

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Year:  1990        PMID： 1971992      PMCID： PMC1683770     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  31 in total

1.  Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

Authors:  B de Martinville; L M Kunkel; G Bruns; F Morlé; M Koenig; J L Mandel; A Horwich; S A Latt; J F Gusella; D Housman
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025

2.  An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter [HGM8 assignment no. DXS 143].

Authors:  W Middlesworth; C Bertelson; L M Kunkel
Journal:  Nucleic Acids Res       Date:  1985-08-12       Impact factor: 16.971

3.  X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22.

Authors:  M Mächler; D Frey; A Gal; U Orth; T F Wienker; A Fanconi; W Schmid
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

4.  Report of the Committee on Methods of Linkage Analysis and Reporting.

Authors:  P M Conneally; J H Edwards; K K Kidd; J M Lalouel; N E Morton; J Ott; R White
Journal:  Cytogenet Cell Genet       Date:  1985

5.  The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females.

Authors:  D Bixler; M Higgins; J Hartsfield
Journal:  Clin Genet       Date:  1984-07       Impact factor: 4.438

6.  The genetic linkage map of the human X chromosome.

Authors:  D Drayna; R White
Journal:  Science       Date:  1985-11-15       Impact factor: 47.728

7.  Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.

Authors:  A P Read; R V Thakker; K E Davies; R C Mountford; D P Brenton; M Davies; F Glorieux; R Harris; G N Hendy; A King
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

8.  Chromosome maps of man and mouse II.

Authors:  V J Buckle; J H Edwards; E P Evans; J A Jonasson; M F Lyon; J Peters; A G Searle; N S Wedd
Journal:  Clin Genet       Date:  1984-07       Impact factor: 4.438

9.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

10.  Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

Authors:  U Francke; H D Ochs; B de Martinville; J Giacalone; V Lindgren; C Distèche; R A Pagon; M H Hofker; G J van Ommen; P L Pearson
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025
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  15 in total

1.  Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0).

Authors:  P Francis; V Berry; S Bhattacharya; A Moore
Journal:  Br J Ophthalmol       Date:  2000-12       Impact factor: 4.638

2.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

3.  The genetics of cataract: our vision becomes clearer.

Authors:  J F Hejtmancik
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

4.  Exclusion of three candidate genes, Grpr, Cxn33, and Pdha1, for the X-linked cataract gene on the distal region of the mouse chromosome X.

Authors:  E Zhou; J Favor; W Silvers; D Stambolian
Journal:  Mamm Genome       Date:  1995-05       Impact factor: 2.957

5.  The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

Authors:  Manèl Chograni; Imen Rejeb; Lamia Ben Jemaa; Myriam Châabouni; Habiba Chaabouni Bouhamed
Journal:  Eur J Hum Genet       Date:  2011-05-11       Impact factor: 4.246

Review 6.  The genetics of childhood cataract.

Authors:  P J Francis; V Berry; S S Bhattacharya; A T Moore
Journal:  J Med Genet       Date:  2000-07       Impact factor: 6.318

7.  Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene.

Authors:  C Oudet; C Weber; J Kaplan; B Segues; M F Croquette; E O Roman; A Hanauer
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

8.  Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.

Authors:  Xiaoyan Ding; Mrinali Patel; Alexandra A Herzlich; Pamela C Sieving; Chi-Chao Chan
Journal:  Ophthalmic Genet       Date:  2009-09       Impact factor: 1.803

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

Authors:  Kathryn P Burdon; James D McKay; Michèle 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; Jamie E Craig
Journal:  Am J Hum Genet       Date:  2003-10-16       Impact factor: 11.025

10.  X-linked cataract and Nance-Horan syndrome are allelic disorders.

Authors:  Margherita Coccia; Simon P Brooks; Tom R Webb; Katja Christodoulou; Izabella O Wozniak; Victoria Murday; Martha Balicki; Harris A Yee; Teresia Wangensteen; Ruth Riise; Anand K Saggar; Soo-Mi Park; Naheed Kanuga; Peter J Francis; Eamonn R Maher; Anthony T Moore; Isabelle M Russell-Eggitt; Alison J Hardcastle
Journal:  Hum Mol Genet       Date:  2009-05-04       Impact factor: 6.150
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