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

Détails

ID Serval
serval:BIB_7FD1017A08AC
Type
Actes de conférence (partie): contribution originale à la littérature scientifique, publiée à l'occasion de conférences scientifiques, dans un ouvrage de compte-rendu (proceedings), ou dans l'édition spéciale d'un journal reconnu (conference proceedings).
Sous-type
Poster: résume de manière illustrée et sur une page unique les résultats d'un projet de recherche. Les résumés de poster doivent être entrés sous "Abstract" et non "Poster".
Collection
Publications
Titre
Retinomas : a genotype-phenotype correlation : abstract E-3112
Titre de la conférence
ARVO 2008 Annual Meeting, Eyes on innovation
Auteur(s)
Abouzeid H., Balmer A., Schorderet D., Munier F.L.
Adresse
Fort Lauderdale, Florida, April 26-May 1, 2008
ISBN
1552-5783
Statut éditorial
Publié
Date de publication
2008
Peer-reviewed
Oui
Volume
49
Série
Investigative Ophthalmology and Visual Science
Langue
anglais
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.
Mots-clé
retinoblastoma , genetics , gene screening
Création de la notice
06/10/2009 10:20
Dernière modification de la notice
20/08/2019 14:40
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