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PMID: 3124613 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

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

American journal of human genetics ·Vol. 42 ·No. 2 ·1988-02-00 ·Pages 284-9

Riccardi VM, Lewis RA

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.

MeSH Terms
Female Gene Frequency Genetic Variation Humans Iris Diseases/genetics,pathology Male Mutation Neurofibromatosis 1/genetics,pathology Pedigree Risk Factors Uveal Neoplasms/genetics,pathology
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Riccardi V M
Department of Medicine, Baylor College of Medicine, Houston, TX 77030.
Lewis R A
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11 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1988-02-00
Pages
284-9
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1715266
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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