Literature DB >> 6430086

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

V M Riccardi, C E Dobson, R Chakraborty, C Bontke.   

Abstract

Von Recklinghausen neurofibromatosis is characterized by a relatively large proportion of apparently nonfamilial cases, presumed spontaneous mutations. This paper analyzes the distribution of paternal and maternal ages for 187 patients with von Recklinghausen disease representing the first definite case in their respective families. Mean paternal age was 32.8 years and mean maternal age was 27.4 years, both being significantly greater than for control populations (P equal to or less than .001). The advanced paternal age was not accounted for by the increase in maternal age. The methodology of controlling the general population paternal ages for each patient's birth year is described.

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Year:  1984        PMID: 6430086     DOI: 10.1002/ajmg.1320180121

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  25 in total

1.  Neurofibromatosis-1: a maximum likelihood estimation of mutation rate.

Authors:  M Clementi; G Barbujani; L Turolla; R Tenconi
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

2.  Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

Authors:  R A Lewis
Journal:  Trans Am Ophthalmol Soc       Date:  1989

3.  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

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.  Spontaneous mutation and parental age in humans.

Authors:  N Risch; E W Reich; M M Wishnick; J G McCarthy
Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025

6.  A genetic study of neurofibromatosis 1 in south-western Ontario. I. Population, familial segregation of phenotype, and molecular linkage.

Authors:  D I Rodenhiser; M B Coulter-Mackie; J H Jung; S M Singh
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

7.  Ante-natal counseling in phacomatoses.

Authors:  Dana Brabbing-Goldstein; Shay Ben-Shachar
Journal:  Childs Nerv Syst       Date:  2020-07-05       Impact factor: 1.475

8.  Mutation frequency declines during spermatogenesis in young mice but increases in old mice.

Authors:  C A Walter; G W Intano; J R McCarrey; C A McMahan; R B Walter
Journal:  Proc Natl Acad Sci U S A       Date:  1998-08-18       Impact factor: 11.205

9.  Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.

Authors:  L M Kayes; V M Riccardi; W Burke; R L Bennett; K Stephens
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

10.  Genetics of neurofibromatosis 1 in Japan: mutation rate and paternal age effect.

Authors:  T Takano; T Kawashima; Y Yamanouchi; K Kitayama; T Baba; K Ueno; H Hamaguchi
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

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