RB1 gene mutations in retinoblastoma

Human MutationVolume 14, Issue 4 p. 283-288 Mutation UpdateFree Access RB1 gene mutations in retinoblastoma Dietmar R. Lohmann, Corresponding Author Dietmar R. Lohmann [email protected] Institut für Humangenetik, Universitätsklinkum Essen, GermanyHufelandstrasse 55, D-45122 Essen, Germany; Fax: +49-201-723-5900Search for more papers by this author Dietmar R. Lohmann, Corresponding Author Dietmar R. Lohmann [email protected] Institut für Humangenetik, Universitätsklinkum Essen, GermanyHufelandstrasse 55, D-45122 Essen, Germany; Fax: +49-201-723-5900Search for more papers by this author First published: 28 September 1999 https://doi.org/10.1002/(SICI)1098-1004(199910)14:4<283::AID-HUMU2>3.0.CO;2-JCitations: 148AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract Mutations in both alleles of the RB1 gene are causal for the development of retinoblastoma, a childhood tumor of the eye. The spectrum of somatic and germline mutations in this gene is dominated by small mutations. Data on small mutations are listed in a locus specific database available at http://www.d-lohmann.de/Rb/mutations.html. Analysis of 368 reported small mutations reveals considerable heterogeneity. A notable recurrence of transitions is observed at 13 CpG-dinucleotides that are part of CGA codons or splice donor sites. Most mutations create a premature termination codon. With few exceptions, patients heterozygous for mutations of this kind develop bilateral retinoblastoma. Missense mutations and inframe deletions are rare. Some of these mutations are associated with a distinct phenotype marked by incomplete penetrance and reduced expressivity. Hum Mutat 14:283–288, 1999. © 1999 Wiley-Liss, Inc. REFERENCES Antonarakis SE. 1998. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 11: 1– 3.Medline Blanquet V, Creau-Goldberg N, de Grouchy J, Turleau C. 1991. 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