Clinical, cytogenetic, and molecular testing of Argentine patients with retinoblastoma. TI - RB1 gene mutations in retinoblastoma. The spectrum of somatic and germline mutations in this gene is dominated by small mutations. 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. TI - Clinical, cytogenetic, and molecular testing of Argentine patients with retinoblastoma. The purpose of this study is to determine the clinical, chromosomal, and molecular characteristics of Argentine patients with unilateral and bilateral retinoblastoma.