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RB1 gene mutations in retinoblastoma
Author(s) -
Lohmann Dietmar R.
Publication year - 1999
Publication title -
human mutation
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(199910)14:4<283::aid-humu2>3.0.co;2-j
Subject(s) - biology , genetics , missense mutation , retinoblastoma , penetrance , germline mutation , gene , germline , allele , locus (genetics) , mutation , suppressor mutation , phenotype
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.