PMID- 37548407
OWN - NLM
STAT- MEDLINE
DCOM- 20231127
LR  - 20231127
IS  - 2324-9269 (Electronic)
IS  - 2324-9269 (Linking)
VI  - 11
IP  - 11
DP  - 2023 Nov
TI  - Mutation spectrum of retinoblastoma patients in Vietnam.
PG  - e2244
LID - 10.1002/mgg3.2244 [doi]
LID - e2244
AB  - BACKGROUND: Retinoblastoma (RB), an intraocular malignancy commonly diagnosed in 
      children, is mostly caused by inactivating mutations of both alleles of the RB1 
      gene. Early genetic screening for RB1 gene mutations would greatly improve 
      treatment outcomes and patient management. METHODS: In this study, both somatic 
      and germline mutations were detected in blood and tumour samples of 42 RB 
      patients using direct sequencing and multiplex ligation-dependent probe 
      amplification. RESULTS: In total, 34 different mutations were found in 36 
      patients, including 1 SNP, 4 large deletions, 5 splicing sites, 1 missense, 7 
      frameshifts and 17 nonsense mutations. There were five novel mutations and one 
      unreported which have not been found in large databases such as Leiden Open 
      Variation Database (LOVD) and ClinVar. CONCLUSION: A higher rate of RB patients 
      carrying heterozygous germline mutation and highly prevalent with pathogenic 
      truncated mutation, hence, early detection of RB is essential for vision 
      salvation and genetic counselling.
CI  - (c) 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley 
      Periodicals LLC.
FAU - Linh, Dao Nguyen Ha
AU  - Linh DNH
AD  - Hanoi Medical University, Hanoi, Vietnam.
AD  - National Institute of Ophthalmology, Hanoi, Vietnam.
FAU - Van Huy, Nguyen
AU  - Van Huy N
AD  - National Institute of Ophthalmology, Hanoi, Vietnam.
FAU - Nguyen, Phuoc-Dung
AU  - Nguyen PD
AUID- ORCID: 0000-0002-5527-7360
AD  - Hanoi Medical University, Hanoi, Vietnam.
FAU - Le Thi, Phuong
AU  - Le Thi P
AD  - Hanoi Medical University, Hanoi, Vietnam.
FAU - Tuan, Hoang Anh
AU  - Tuan HA
AD  - National Institute of Ophthalmology, Hanoi, Vietnam.
FAU - Van Nguyen, Trong
AU  - Van Nguyen T
AD  - National Institute of Ophthalmology, Hanoi, Vietnam.
FAU - Tran, Thu Ha
AU  - Tran TH
AD  - National Institute of Ophthalmology, Hanoi, Vietnam.
FAU - Tran, Hai Anh
AU  - Tran HA
AD  - Hanoi Medical University, Hanoi, Vietnam.
FAU - Ta, Thanh Dat
AU  - Ta TD
AD  - Hanoi Medical University, Hanoi, Vietnam.
FAU - Pham, Tuan L A
AU  - Pham TLA
AD  - Hanoi Medical University, Hanoi, Vietnam.
FAU - Bui, The-Hung
AU  - Bui TH
AD  - Hanoi Medical University, Hanoi, Vietnam.
AD  - Center for Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet, 
      Karolinska University Hospital, Stockholm, Sweden.
FAU - Tran, Thinh Huy
AU  - Tran TH
AD  - Hanoi Medical University, Hanoi, Vietnam.
AD  - Hanoi Medical University Hospital, Hanoi Medical University, Hanoi, Vietnam.
FAU - Van Ta, Thanh
AU  - Van Ta T
AD  - Hanoi Medical University, Hanoi, Vietnam.
AD  - Hanoi Medical University Hospital, Hanoi Medical University, Hanoi, Vietnam.
FAU - Tran, Van-Khanh
AU  - Tran VK
AUID- ORCID: 0000-0002-5059-8106
AD  - Hanoi Medical University, Hanoi, Vietnam.
LA  - eng
GR  - 2385/QD-BYT/Vietnam Ministry of Health/
PT  - Journal Article
DEP - 20230807
PL  - United States
TA  - Mol Genet Genomic Med
JT  - Molecular genetics & genomic medicine
JID - 101603758
SB  - IM
MH  - Child
MH  - Humans
MH  - *Retinoblastoma/genetics/pathology
MH  - Vietnam
MH  - Mutation
MH  - Genetic Testing
MH  - *Retinal Neoplasms/genetics/pathology
PMC - PMC10655509
OTO - NOTNLM
OT  - MLPA
OT  - RB1 gene
OT  - mutation
OT  - retinoblastoma
OT  - sequencing
COIS- The authors declare no conflict of interest.
EDAT- 2023/08/07 13:09
MHDA- 2023/11/27 12:43
PMCR- 2023/08/07
CRDT- 2023/08/07 08:13
PHST- 2023/06/12 00:00 [revised]
PHST- 2023/01/17 00:00 [received]
PHST- 2023/07/12 00:00 [accepted]
PHST- 2023/11/27 12:43 [medline]
PHST- 2023/08/07 13:09 [pubmed]
PHST- 2023/08/07 08:13 [entrez]
PHST- 2023/08/07 00:00 [pmc-release]
AID - MGG32244 [pii]
AID - 10.1002/mgg3.2244 [doi]
PST - ppublish
SO  - Mol Genet Genomic Med. 2023 Nov;11(11):e2244. doi: 10.1002/mgg3.2244. Epub 2023 
      Aug 7.