Literature DB >> 8981956

Fine mapping of the nail-patella syndrome locus at 9q34.

I McIntosh1, M V Clough, A A Schäffer, E G Puffenberger, V K Horton, K Peters, M H Abbott, C M Roig, S Cutone, L Ozelius, D J Kwiatkowski, R E Pyeritz, L J Brown, R M Pauli, M K McCormick, C A Francomano.   

Abstract

Nail-patella syndrome (NPS), or onychoosteodysplasia, is an autosomal dominant, pleiotropic disorder characterized by nail dysplasia, absent or hypoplastic patellae, iliac horns, and nephropathy. Previous studies have demonstrated linkage of the nail-patella locus to the ABO and adenylate kinase loci on human chromosome 9q34. As a first step toward isolating the NPS gene, we present linkage analysis with 13 polymorphic markers in five families with a total of 69 affected persons. Two-point linkage analysis with the program MLINK showed tight linkage of NPS and the anonymous markers D9S112 (LOD = 27.0; theta = .00) and D9S315 (LOD = 22.0; theta = .00). Informative recombination events place the NPS locus within a 1-2-cM interval between D9S60 and the adenylate kinase gene (AK1).

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Mesh：

Year:  1997        PMID： 8981956      PMCID： PMC1712569     

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


  27 in total

1.  Genetical linkage between the ABO and nail-patella loci.

Authors:  J H RENWICK; S D LAWLER
Journal:  Ann Hum Genet       Date:  1955-06       Impact factor: 1.670

2.  Assignment of the ABO-N-P-AK1 linkage group to chromosome 9 in man-hamster hybrids.

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Journal:  Birth Defects Orig Artic Ser       Date:  1976

3.  Assignment of human genes: beta-glucuronidase to chromosome 7, adenylate kinase-1 to 9, a second enzyme with enolase activity to 12, and mitochondrial IDH to 15.

Authors:  K H Grzeschik
Journal:  Birth Defects Orig Artic Ser       Date:  1976

4.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

5.  Data on the incidence, segregation and linkage relations of the adenylate kinase (AK) polymorphism.

Authors:  S Rapley; E B Robson; H Harris; S M Smith
Journal:  Ann Hum Genet       Date:  1968-01       Impact factor: 1.670

6.  Assignment of the AK1:Np:ABO linkage group to human chromosome 9.

Authors:  A Westerveld; A P Jongsma; P Meera Khan; H van Someren; D Bootsma
Journal:  Proc Natl Acad Sci U S A       Date:  1976-03       Impact factor: 11.205

7.  Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase.

Authors:  S Matsuura; M Igarashi; Y Tanizawa; M Yamada; F Kishi; T Kajii; H Fujii; S Miwa; M Sakurai; A Nakazawa
Journal:  J Biol Chem       Date:  1989-06-15       Impact factor: 5.157

8.  Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

Authors:  T Mohandas; R S Sparkes; M C Sparkes; J D Shulkin; K E Toomey; S J Funderburk
Journal:  Am J Hum Genet       Date:  1979-09       Impact factor: 11.025

9.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

10.  Evidence for the assignment of the loci AK1, AK3 and ACONs to chromosome 9 in man.

Authors:  S Povey; C A Slaughter; D E Wilson; I P Gormley; K E Buckton; P Perry; M Bobrow
Journal:  Ann Hum Genet       Date:  1976-05       Impact factor: 1.670
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  9 in total

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Authors:  Henry J Mankin; Jesse Jupiter; Carol Ann Trahan
Journal:  Hand (N Y)       Date:  2010-10-26

2.  Nail patella syndrome: a review of the phenotype aided by developmental biology.

Authors:  E Sweeney; A Fryer; R Mountford; A Green; I McIntosh
Journal:  J Med Genet       Date:  2003-03       Impact factor: 6.318

Review 3.  The aetiology of idiopathic Parkinson's disease.

Authors:  D B Ramsden; R B Parsons; S L Ho; R H Waring
Journal:  Mol Pathol       Date:  2001-12

4.  Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.

Authors:  M Mangino; O Sanchez; I Torrente; A De Luca; F Capon; G Novelli; B Dallapiccola
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

Review 5.  LIM-homeodomain genes in mammalian development and human disease.

Authors:  Chad S Hunter; Simon J Rhodes
Journal:  Mol Biol Rep       Date:  2005-06       Impact factor: 2.316

6.  Mutation analysis of LMX1B gene in nail-patella syndrome patients.

Authors:  I McIntosh; S D Dreyer; M V Clough; J A Dunston; W Eyaid; C M Roig; T Montgomery; S Ala-Mello; I Kaitila; A Winterpacht; B Zabel; M Frydman; W G Cole; C A Francomano; B Lee
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

7.  Nail-patella syndrome-a novel mutation in the LMX1B gene.

Authors:  Rajesh R Nair; Vavullipathy N Unni; Kadevalappil N Indu; Sheela Nampoothiri; Anil Mathew; George Kurian; Avadaiammal Vimala
Journal:  Clin Kidney J       Date:  2013-04-25

8.  A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.

Authors:  Joo Ho Ham; Seok Joon Shin; Kyu Re Joo; Sung Min Park; Hye Young Sung; Joong Seok Kim; Jin Soo Choi; Yeong Jin Choi; Ho Cheol Song; Eui Jin Choi
Journal:  Korean J Intern Med       Date:  2009-08-26       Impact factor: 3.165

9.  Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.

Authors:  Elena Millá; Imma Hernan; Maria José Gamundi; Maria Martínez-Gimeno; Miguel Carballo
Journal:  Mol Vis       Date:  2007-04-27       Impact factor: 2.367
  9 in total

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