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PMID: 1971154 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Somatic mosaicism in a patient with bilateral retinoblastoma.

American journal of human genetics ·Vol. 46 ·No. 6 ·1990-06-00 ·Pages 1187-93

Greger V, Passarge E, Horsthemke B

Abstract

We describe two cell lines with different deletions of the retinoblastoma gene in a patient with bilateral retinoblastoma. This patient has transmitted the mutation less frequent in his lymphocytes to two affected children. We cloned, mapped, and sequenced the junction fragments of the two deletions and found that they share one breakpoint but extend into opposite directions. An insertion of 4 bp of unknown origin is present between the breakpoints in one of the deletions. The second deletion shows a more complex rearrangement, including an inversion at the 5' end. Short regions of homology were found at the breakpoints and flanking the inversion. These results support the notion that bilateral retinoblastoma may not only be due to a germ-line mutation but also to a postzygotic mutation leading to somatic mosaicism.

MeSH Terms
Base Sequence Blotting, Southern Chromosome Deletion Eye Neoplasms/genetics Female Humans Male Molecular Sequence Data Mosaicism/genetics Pedigree Polymorphism, Restriction Fragment Length Restriction Mapping Retinoblastoma/genetics Tumor Cells, Cultured
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Greger V
Institut für Humangenetik, Universitätsklinikum Essen, Federal Republic of Germany.
Passarge E
Horsthemke B
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1990-06-00
Pages
1187-93
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1683849
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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