[Characteristics of RB1 gene mutations in Chinese patients with retinoblastoma].
OBJECTIVE
To study the characteristics of RB1 gene mutations in Chinese patients with retinoblastoma.


METHODS
Peripheral blood samples of 35 patients with retinoblastoma were collected and genomic DNA was extracted. Multiplex PCR sequencing was carried out to identify RB1 gene mutations. Parents of 6 probands with RB1 mutations were also enrolled to identify the origins of mutations.


RESULTS
Fourteen patients were found to have carried germline mutations, among whom 11 had bilateral tumors and 3 had unilateral tumors. Sixteen germline mutations were identified, among which 13 were pathological, which included 5 nonsense mutations (c.1072C > T, c.1333C > T, c.1363C > T, c.1399C > T, c.2501C > A), 4 missense mutations (c.920C > T, c.1346G > A, c.1468G > A, c.1861C > A), 2 frameshift mutations (c.1947delG, c.2403delA) and 2 large fragment deletions (c.139_168 del30, exon 8 deletion). Three were non-pathological mutations, including 2 intronic mutations (c.540-23 dupT, c.2664-10T > A) and 1 silent mutation (c.2192T > A). One carrier was identified among the 6 parents of children carrying a RB1 mutation.


CONCLUSIONS
Screening for RB1 gene mutations in patients with bilateral or unilateral retinoblastoma can help to identify heritable mutations and provide important clues for genetic counseling and clinical management.
Department of Hematology and Oncology, Children's Hospital of Fudan University, Shanghai 201102, P. R. China. Email: gaoyijin@hotmail.com.
Ming-yan
MY
He
Yu
Y
An
Gang
G
Li
Jiang
J
Qian
Yi-jin
YJ
Gao
D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D012175:Retinoblastoma / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics*; D055815:Young Adult
D016160:Retinoblastoma Protein