Constitutive RB1 mutation in a child conceived by in vitro fertilization: Implications for genetic counseling

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Barbosa, Raquel H ^a   Vargas, Fernando R ^a,b   Lucena, Evandro ^a   Bonvicino, Cibele R ^a   Seuánez, Héctor N ^a,c  

^a INSTITUTO NACIONAL DE CÂNCER   (Brazil)

^b FEDERAL UNIVERSITY OF THE STATE OF RIO DE JANEIRO   (Brazil)

^c FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

RETINOBLASTOMA PROTEIN; RETINOBLASTOMA PROTEIN 1; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ARTICLE; CASE REPORT; CHILD; FEMALE; FERTILIZATION IN VITRO; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HERITABILITY; HETEROZYGOSITY; HUMAN; INTRON; MULTIPLE PREGNANCY; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PROMOTER REGION; RETINOBLASTOMA; CHROMOSOME 13; EXON; GENETIC PREDISPOSITION; GENETICS; MALE; MUTATION; POLYMERASE CHAIN REACTION; RETINA TUMOR;

5' UNTRANSLATED REGIONS; CHROMOSOMES, HUMAN, PAIR 13; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FERTILIZATION IN VITRO; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; PROMOTER REGIONS, GENETIC; QUADRUPLETS; RETINAL NEOPLASMS; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN;

EID: 68549118933     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-75     Document Type: Article

References (18)

1. Cavenee WK Dryja TP Phillips RA Benedict WF Godbout R Gallie BL Murphree AL Strong LC White RL Expression of recessive alleles by chromosomal mechanisms in retinoblastoma Nature 1983, 305(5937):779-784. 10.1038/ 305779a0 6633649
2. Kaelin WG Jr Functions of the retinoblastoma protein Bioessays 1999, 21(11):950-958. 10517868 10.1002/ (SICI)1521-1878(199911)21:11<950::AID-BIES7>3.0.CO;2-D
3. Cavenee WK Chromosomal mechanisms in the initiation of human familial mixed cancers Princess Takamatsu Symp 1986, 17:171-179. 3332009
4. Lee V Hungerford JL Bunce C Ahmed F Kingston JE Plowman PN Globe conserving treatment of the only eye in bilateral retinoblastoma Br J Ophthalmol 2003, 87(11):1374-1380. 10.1136/bjo.87.11.1374 1771893 14609838
5. de Andrade AF da Hora Barbosa R Vargas FR Ferman S Eisenberg AL Fernandes L Bonvicino CR A molecular study of first and second RB1 mutational hits in retinoblastoma patients Cancer Genet Cytogenet 2006, 167(1):43-46. 10.1016/j.cancergencyto.2005.08.017 16682285
6. Sakai T Toguchida J Ohtani N Yandell DW Rapaport JM Dryja TP Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene Am J Hum Genet 1991, 48(5):880-888. 1683063 1673287
7. Blanquet V Turleau C Gross MS Goossens M Besmond C Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing Hum Mol Genet 1993, 2(7):975-979. 10.1093/hmg/2.7.975 8364580
8. Niemitz EL Feinberg AP Epigenetics and assisted reproductive technology: a call for investigation Am J Hum Genet 2004, 74(4):599-609. 10.1086/ 382897 1181938 14991528
9. Lohmann DR Gerick M Brandt B Oelschlager U Lorenz B Passarge E Horsthemke B Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma Am J Hum Genet 1997, 61(2):282-294. 10.1086/ 514845 1715910 9311732
10. Gill RM Hamel PA Zhe J Zacksenhaus E Gallie BL Phillips RA Characterization of the human RB1 promoter and of elements involved in transcriptional regulation Cell Growth Differ 1994, 5(5):467-474. 8049153
11. Kiran VS Kannabiran C Chakravarthi K Vemuganti GK Honavar SG Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations Hum Mutat 2003, 22(4):339. 10.1002/humu.9181 12955724
12. Nichols KE Houseknecht MD Godmilow L Bunin G Shields C Meadows A Ganguly A Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene Hum Mutat 2005, 25(6):566-574. 10.1002/humu.20184 15884040
13. Stirzaker C Millar DS Paul CL Warnecke PM Harrison J Vincent PC Frommer M Clark SJ Extensive DNA methylation spanning the Rb promoter in retinoblastoma tumors Cancer Res 1997, 57(11):2229-2237. 9187126
14. Kozak M Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes Cell 1986, 44(2):283-292. 10.1016/0092-8674(86)90762-2 3943125
15. Kozak M An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs Nucleic Acids Res 1987, 15(20):8125-8148. 10.1093/nar/ 15.20.8125 306349 3313277
16. Bean CJ Hassold TJ Judis L Hunt PA Fertilization in vitro increases non-disjunction during early cleavage divisions in a mouse model system Hum Reprod 2002, 17(9):2362-2367. 10.1093/humrep/17.9.2362 12202426
17. Burns WN Schiaffino MV Lewis RA Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor Fertil Steril 1998, 70(6):1169-1172. 10.1016/S0015-0282(98)00387-2 9848314
18. Tizzano EF Cusco I Barcelo MJ Parra J Baiget M Should gamete donors be tested for spinal muscular atrophy? Fertil Steril 2002, 77(2):409-411. 10.1016/S0015-0282(01)02994-6 11821106