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Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma

✍ Scribed by Anna Jakubowska; Stanislaw Zajaczek; Olga Haus; Janusz Limon; Ewa Kostyk; Zofia Krzystolik; Jan Lubinski

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 117 KB
Volume: 18
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1220

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✦ Synopsis

Retinoblastoma is the most common intraocular malignancy in children. It is estimated that 60 percent of cases are nonhereditary and unilateral, 15% are hereditary and unilateral, and 25 percent are hereditary and bilateral. Hereditary predisposition for retinoblastoma is caused by germline mutations in the RB1 gene and is transmitted in an autosomal dominant manner. Most of the reported mutations are unique to one family, but there are sites where mutations are recurrent. We have performed RB1 gene mutation analysis in eight patients with familial and/or bilateral retinoblastoma by DNA/RNA sequencing. Constitutional mutations were found in five out of eight patients. Three mutations were novel: g.IVS7+5G>A, g.156709T>A, and g.IVS21+1G>A (p.G203-E240del, p.Y659X, and p.I703-E737del).

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