Literature DB >> 8592326

Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.

F C Mansergh1, P F Kenna, G Rudolph, T Meitinger, G J Farrar, R Kumar-Singh, J Scorer, A M Hally, L Mynett-Johnson, M M Humphries.   

Abstract

Best's vitelliform macular dystrophy is an early onset, autosomal dominant macular degeneration. Linkage analysis has previously mapped a disease locus in this disorder to the pericentromeric region of chromosome 11. We examined two families, one of German and one of Irish origin, both affected with this disorder. The Irish family (BTMD1) showed strong evidence for linkage to the previously reported locus on chromosome 11. Linkage of the disease locus to the same region of chromosome 11 has been significantly excluded in the German family (Fam E), thereby providing evidence of locus heterogeneity in this clinically unique condition.

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Year:  1995        PMID： 8592326      PMCID： PMC1051734          DOI： 10.1136/jmg.32.11.855

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  24 in total

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Authors:  G B Arden; A Barrada; J H Kelsey
Journal:  Br J Ophthalmol       Date:  1962-08       Impact factor: 4.638

2.  The 1993-94 Généthon human genetic linkage map.

Authors:  G Gyapay; J Morissette; A Vignal; C Dib; C Fizames; P Millasseau; S Marc; G Bernardi; M Lathrop; J Weissenbach
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

3.  Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter.

Authors:  B H Weber; G Vogt; W Wolz; E J Ives; C C Ewing
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

4.  Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity.

Authors:  B H Weber; D Walker; B Müller; L Mar
Journal:  Genomics       Date:  1994-03-15       Impact factor: 5.736

5.  Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population.

Authors:  S van Soest; L I van den Born; A Gal; G J Farrar; L M Bleeker-Wagemakers; A Westerveld; P Humphries; L A Sandkuijl; A A Bergen
Journal:  Genomics       Date:  1994-08       Impact factor: 5.736

6.  High-resolution meiotic and physical mapping of the best vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11.

Authors:  B H Weber; G Vogt; H Stöhr; S Sander; D Walker; C Jones
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

7.  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

8.  Molecular evidence for non-penetrance in Best's disease.

Authors:  B H Weber; D Walker; B Müller
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

9.  Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p.

Authors:  H Kremer; A Pinckers; B van den Helm; A F Deutman; H H Ropers; E C Mariman
Journal:  Hum Mol Genet       Date:  1994-02       Impact factor: 6.150

10.  Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q.

Authors:  E M Stone; B E Nichols; A E Kimura; T A Weingeist; A Drack; V C Sheffield
Journal:  Arch Ophthalmol       Date:  1994-06
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  5 in total

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Authors:  C Graff; C Wadelius
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

2.  Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy.

Authors:  F Mansergh; T Meitinger; G Rodolph; P Humphries; G J Farrar
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

3.  Pattern ERG and psychophysical functions in Best's disease.

Authors:  M Jarc-Vidmar; P Popović; M Hawlina; J Brecelj
Journal:  Doc Ophthalmol       Date:  2001-07       Impact factor: 2.379

4.  Mutations in IMPG1 cause vitelliform macular dystrophies.

Authors:  Gaël Manes; Isabelle Meunier; Almudena Avila-Fernández; Sandro Banfi; Guylène Le Meur; Xavier Zanlonghi; Marta Corton; Francesca Simonelli; Philippe Brabet; Gilles Labesse; Isabelle Audo; Saddek Mohand-Said; Christina Zeitz; José-Alain Sahel; Michel Weber; Hélène Dollfus; Claire-Marie Dhaenens; Delphine Allorge; Elfride De Baere; Robert K Koenekoop; Susanne Kohl; Frans P M Cremers; Joe G Hollyfield; Audrey Sénéchal; Maxime Hebrard; Béatrice Bocquet; Carmen Ayuso García; Christian P Hamel
Journal:  Am J Hum Genet       Date:  2013-08-29       Impact factor: 11.025

5.  Clinical and visual electrophysiological characteristics of vitelliform macular dystrophies in the first decade of life.

Authors:  Srikanta Kumar Padhy; Deepika C Parameswarappa; Komal Agarwal; Brijesh Takkar; Shashwat Behera; Bhavik Panchal; Muralidhar Ramappa; Tapas Ranjan Padhi; Subhadra Jalali
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969
  5 in total

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