Retinomas : a genotype-phenotype correlation : abstract E-3112

Details

Serval ID
serval:BIB_7FD1017A08AC
Type
Inproceedings: an article in a conference proceedings.
Publication sub-type
Poster: Summary – with images – on one page of the results of a researche project. The summaries of the poster must be entered in "Abstract" and not "Poster".
Collection
Publications
Institution
Title
Retinomas : a genotype-phenotype correlation : abstract E-3112
Title of the conference
ARVO 2008 Annual Meeting, Eyes on innovation
Author(s)
Abouzeid H., Balmer A., Schorderet D., Munier F.L.
Address
Fort Lauderdale, Florida, April 26-May 1, 2008
ISBN
1552-5783
Publication state
Published
Issued date
2008
Peer-reviewed
Oui
Volume
49
Series
Investigative Ophthalmology and Visual Science
Language
english
Notes
Purpose: To study phenotype-genotype correlation in patients with hereditary retinoma, a benign tumor wich presents either as an old retinal scar or as a mass resembling the post irradiation regression pattern of retinoblastoma.
Methods: We selected bilaterally affected patients with retinoma in one eye and either retinoma or retinoblastoma in the other eye. All patients underwent full ophthalmic examination. After obtaining informed consent, DNA was extracted from peripheral blood leucocytes and the RB1 gene was screened by DHPLC and direct sequencing of the promoter and all the exons.
Results: Twenty-one patients with available DNA were included in the study. We identified a germline mutation in 16 of the 21 patients. Out of the 16 patients with identified mutations, 14 cases were familial, from 8 families, and 2 cases were sporadic. Thus, we had 10 index cases in total. The 10 identified mutations were located in exons 1, 10,11,13,14 and 19 to 23. Four of the identified mutations were not previously reported, these are g.64407delT, g.153236A>T, g.156743delTCTG and g.162078delA. Truncating mutations were found in 12 out the 16 cases, and missense mutations in the remaining 4 cases. There was no correlation between the type of mutation and the number of tumor foci per eye (retinoblastoma or retinomas). Inter and intrafamilial significantly heterogeneous expressivity was observed.
Conclusions: The present study suggests that the type of inherited mutation is not the determinant factor for the development of retinomas. We postulate that genetic or epigenetic modifier factors might be involved, as well as the nature of the second, non-inherited mutation.
Keywords
retinoblastoma , genetics , gene screening
Create date
06/10/2009 10:20
Last modification date
20/08/2019 14:40
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