Literature DB >> 3124613

Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants.

V M Riccardi1, R A Lewis.   

Abstract

This paper reviews the concepts of penetrance and expressivity and examines their application to the specific disorder von Recklinghausen neurofibromatosis. The data suggest that assessments of penetrance among predecessors to probands yield results different from those of assessments of penetrance among descendants to probands. For descendants at risk, penetrance is very close to 100%. For predecessors at risk, extremely variable expressivity may confound estimates of penetrance; as a specific example, a family is described in which two brothers have bona fide von Recklinghausen neurofibromatosis and their mother manifests the neurofibromatosis mutation only as iris Lisch nodules.

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Year:  1988        PMID： 3124613      PMCID： PMC1715266     

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


  11 in total

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Authors:  A S Sergeyev
Journal:  Humangenetik       Date:  1975-06-19

2.  Penetrance and variability in neurofibromatosis: a genetic study of 60 families.

Authors:  J C Carey; J M Laub; B D Hall
Journal:  Birth Defects Orig Artic Ser       Date:  1979

3.  Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma.

Authors:  B R Seizinger; R L Martuza; J F Gusella
Journal:  Nature       Date:  1986 Aug 14-20       Impact factor: 49.962

4.  How much editing does a manuscript need?

Authors:  P P Morgan
Journal:  Can Med Assoc J       Date:  1984-08-01       Impact factor: 8.262

5.  Von Recklinghausen neurofibromatosis and genetic linkage studies: clinical considerations.

Authors:  V M Riccardi; J C Carey
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

Review 6.  Von Recklinghausen neurofibromatosis.

Authors:  V M Riccardi
Journal:  N Engl J Med       Date:  1981-12-31       Impact factor: 91.245

7.  Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.

Authors:  D Barker; E Wright; K Nguyen; L Cannon; P Fain; D Goldgar; D T Bishop; J Carey; B Baty; J Kivlin
Journal:  Science       Date:  1987-05-29       Impact factor: 47.728

8.  Neurofibromatosis in the bicolor damselfish (Pomacentrus partitus) as a model of von Recklinghausen neurofibromatosis.

Authors:  M C Schmale; G T Hensley; L R Udey
Journal:  Ann N Y Acad Sci       Date:  1986       Impact factor: 5.691

9.  The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations.

Authors:  V M Riccardi; C E Dobson; R Chakraborty; C Bontke
Journal:  Am J Med Genet       Date:  1984-05

10.  Linkage analysis of neurofibromatosis (von Recklinghausen disease).

Authors:  M A Spence; J L Bader; D M Parry; L L Field; S J Funderburk; A E Rubenstein; P A Gilman; R S Sparkes
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318
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  26 in total

1.  Segregation analysis of peripheral neurofibromatosis (NF1).

Authors:  M Littler; N E Morton
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

2.  Ophthalmological manifestations in segmental neurofibromatosis type 1.

Authors:  M Ruggieri; P Pavone; A Polizzi; M Di Pietro; A Scuderi; A Gabriele; A Spalice; P Iannetti
Journal:  Br J Ophthalmol       Date:  2004-11       Impact factor: 4.638

Review 3.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

4.  A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

Authors:  S M Huson; D A Compston; P Clark; P S Harper
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

5.  The von Recklinghausen neurofibromatosis region on chromosome 17--genetic and physical maps come into focus.

Authors:  F S Collins; B A Ponder; B R Seizinger; C J Epstein
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

Review 6.  Recent developments in the diagnosis and management of neurofibromatosis.

Authors:  S M Huson
Journal:  Arch Dis Child       Date:  1989-05       Impact factor: 3.791

7.  Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital.

Authors:  M H Cnossen; K G Moons; M P Garssen; N M Pasmans; A de Goede-Bolder; M F Niermeijer; D E Grobbee
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

8.  Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation.

Authors:  C Lázaro; H Kruyer; A Gaona; X Estivill
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

9.  Somatic mosaicism in a patient with neurofibromatosis type 1.

Authors:  S D Colman; S A Rasmussen; V T Ho; C R Abernathy; M R Wallace
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

10.  Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1)

Authors:  V M Riccardi
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025
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