Literature DB >> 16189705

A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.

Myrto Papaioannou1, Christina F Chakarova, De Quincy C Prescott, Naushin Waseem, Thorsten Theis, Irma Lopez, Bhavdip Gill, Robert K Koenekoop, Shomi S Bhattacharya.   

Abstract

Retinitis pigmentosa (RP) is a debilitating disease of the retina affecting approximately 1.5 million people worldwide. RP shows remarkable heterogeneity both clinically and genetically, with more than 40 genetic loci implicated, 12 of which account for the autosomal dominant form (adRP) of inheritance. We have recently identified a French Canadian family that presents with early onset adRP. After exclusion of all known loci for adRP, a genome-wide search established firm linkage with a marker from the short arm of chromosome 9 (LOD score of 6.3 at recombination fraction theta=0). The linked region is flanked by markers D9S285 and D9S1874, corresponding to a genetic distance of 31 cM, in the region 9p22-p13.

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Year:  2005        PMID： 16189705     DOI： 10.1007/s00439-005-0063-3

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

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Authors:  C F Inglehearn; E E Tarttelin; C Plant; R E Peacock; M al-Maghtheh; E Vithana; A C Bird; S S Bhattacharya
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

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Journal:  Dev Ophthalmol       Date:  2003

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Authors:  S Bundey; S J Crews
Journal:  J Med Genet       Date:  1984-12       Impact factor: 6.318
  5 in total
  9 in total

Review 1.  Perspective on genes and mutations causing retinitis pigmentosa.

Authors:  Stephen P Daiger; Sara J Bowne; Lori S Sullivan
Journal:  Arch Ophthalmol       Date:  2007-02

2.  Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.

Authors:  Ningdong Li; Han Mei; Ian M MacDonald; XiaoDong Jiao; J Fielding Hejtmancik
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-08-26       Impact factor: 4.799

3.  Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

Authors:  Lori S Sullivan; Sara J Bowne; C Robyn Seaman; Susan H Blanton; Richard A Lewis; John R Heckenlively; David G Birch; Dianna Hughbanks-Wheaton; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-10       Impact factor: 4.799

4.  A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1.

Authors:  Chen Zhao; Shasha Lu; Xiaolei Zhou; Xiumei Zhang; Kanxing Zhao; Catharina Larsson
Journal:  Hum Genet       Date:  2006-04-13       Impact factor: 4.132

5.  Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.

Authors:  Stephen H Tsang; Tomas Burke; Maris Oll; Suzanne Yzer; Winston Lee; Yajing Angela Xie; Rando Allikmets
Journal:  Ophthalmology       Date:  2014-05-06       Impact factor: 12.079

6.  Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Authors:  Christina F Chakarova; Myrto G Papaioannou; Hemant Khanna; Irma Lopez; Naushin Waseem; Amna Shah; Torsten Theis; James Friedman; Cecilia Maubaret; Kinga Bujakowska; Brotati Veraitch; Mai M Abd El-Aziz; De Quincy Prescott; Sunil K Parapuram; Wendy A Bickmore; Peter M G Munro; Andreas Gal; Christian P Hamel; Valeria Marigo; Chris P Ponting; Bernd Wissinger; Eberhart Zrenner; Karl Matter; Anand Swaroop; Robert K Koenekoop; Shomi S Bhattacharya
Journal:  Am J Hum Genet       Date:  2007-09-26       Impact factor: 11.025

7.  TDT-HET: a new transmission disequilibrium test that incorporates locus heterogeneity into the analysis of family-based association data.

Authors:  Douglas Londono; Steven Buyske; Stephen J Finch; Swarkar Sharma; Carol A Wise; Derek Gordon
Journal:  BMC Bioinformatics       Date:  2012-01-20       Impact factor: 3.169

8.  Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Authors:  John Neidhardt; Esther Glaus; Birgit Lorenz; Christian Netzer; Yün Li; Maria Schambeck; Mariana Wittmer; Silke Feil; Renate Kirschner-Schwabe; Thomas Rosenberg; Frans P M Cremers; Arthur A B Bergen; Daniel Barthelmes; Husnia Baraki; Fabian Schmid; Gaby Tanner; Johannes Fleischhauer; Ulrike Orth; Christian Becker; Erika Wegscheider; Gudrun Nürnberg; Peter Nürnberg; Hanno Jörn Bolz; Andreas Gal; Wolfgang Berger
Journal:  Mol Vis       Date:  2008-06-06       Impact factor: 2.367

9.  Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

Authors:  Sara J Bowne; Lori S Sullivan; Anisa I Gire; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Stephen P Daiger
Journal:  Mol Vis       Date:  2008-05-19       Impact factor: 2.367
  9 in total

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