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Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma
Author(s) -
Yilmaz S,
Horsthemke B,
Lohmann DR
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)12:6<434::aid-humu16>3.0.co;2-7
Subject(s) - missense mutation , retinoblastoma , genetics , biology , penetrance , heteroduplex , germline mutation , mutation , gene , nonsense mutation , germline , gene mutation , mutation testing , phenotype
Hereditary predisposition to retinoblastoma is caused by germline mutations in the RB1 gene. Mutation analysis in this gene is important because knowledge of the causative mutation is often required for accurate risk prediction in relatives. We have performed RB1 gene mutation analysis in 45 patients with hereditary retinoblastoma. Screening by heteroduplex and SSCP analysis resulted in the identification of small mutations in 28 (62%) patients. Recurrent mutations, mostly CpG‐transitions, were found in 16 patients. Two patients with isolated bilateral retinoblastoma showed missense mutations, S567L and C712R, which have previously been reported in a patient with bilateral tumors and in a family with low penetrance, respectively. Twelve of the mutations identified here have not been reported to date. These include a novel missense mutation, L662P, which was identified in two bilaterally affected siblings and their mother with unilateral retinoma. © 1998 Wiley‐Liss, Inc.