Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion

Annales de Genetique

Volumn 47, Issue 3, 2004, Pages 235-240

  Voelckel, Marie Antoinette ^a   Girardot, Lydie ^a   Giusiano, Bernard ^b   Levy, Nicolas ^a   Philip, Nicole ^a  

^a Laboratoire de Genetique Moleculaire   (France)

^b TIMONE HOSPITAL   (France)

Author keywords

22q11 microdeletion; Allelic variations; TBX1

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME 22Q; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DISEASE SEVERITY; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOIDY; HUMAN; PHENOTYPE;

ALLELES; CHROMOSOMES, HUMAN, PAIR 22; DNA MUTATIONAL ANALYSIS; EXONS; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; PHENOTYPE; SEQUENCE DELETION; T-BOX DOMAIN PROTEINS; VARIATION (GENETICS);

EID: 4344576717     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.anngen.2004.04.002     Document Type: Article

References (23)

1. Abu-Issa R., Smyth G., Smoak I., Yamamura K., Meyers E.N. FGF8 is required for pharyngeal arch and cardiovascular development in the mouse. Development. 129:2002;4613-4625
2. Cartegnil L., Chew S.L., Krainer A.R. Listening to silence and understanding nonsense exonic mutations that affect splicing. Nat. Rev. Genet. 3:2002;285-298
3. Conti E., Grifone N., Sarkozy A., Tandoi C., Marino B., Digilio M.C., Mingarelli R., Pizzuti A., Dallapiccola B. DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene. Eur. J. Hum. Genet. 11:2003;349-351
4. Edelmann L., Pandita R.K., Spiteri E., Funke B., Goldberg R., Palanisamy N., Chaganti R.S., Magenis E., Shprintzen R.J., Morrow B.E. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum. Mol. Genet. 8:1999;1157-1167
5. Goldberg R., Motzkin B., Marion R., Scambler P.J., Shprintzen R.J. Velo-cardio-facial syndrome: a review of 120 patients. Am. J. Med. Genet. 45:1993;313-319
6. Gong W., Gottlieb S., Collins J., Blescia A., Dietz H., Goldmuntz E., McDonald-McGinn D.M., Zackai E.H., Emanuel B.S., Driscoll D.A., Budarf M.L. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J. Med. Genet. 38:2001;e45
7. Goodship J., Cross I., Scambler P., Burn J. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J. Med. Genet. 32:1995;746-748
8. Hillebrand G., Siebert R., Simeoni E., Santer R. DiGeorge syndrome with discordant phenotype in monozygotic twins. J. Med. Genet. 37:2000;E32
9. Jerome L.A., Papaioannou V.E. DiGeorge syndrome phenotype in mice mutant for the T-box gene, TBX1. Nat. Genet. 27:2001;286-291
10. Korkko J., Annunen S., Pihlajamaa T., Prockop D.J., Ala-Kokko L. Conformation sensitive gel electrophoresis for simple and accrate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc. Natl. Acad. Sci. USA. 95:1998;1681-1685
11. Lachman H.M., Morrow B., Shprintzen R., Veit S., Parsia S.S., Faedda G., Goldberg R., Kucherlapati R., Papolos D.F. Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. Am. J. Med. Genet. 67:1996;468-472
12. Lindsay E.A., Baldini A. Congenital heart defects and 22q11 deletions: which genes count? Mol. Med. Today. 4:1998;350-357
13. Lindsay E.A., Vitelli F., Su H., Morishima M., Huynh T., Pramparo T., Jurecic V., Ogunrinu G., Sutherland H.F., Scambler P.J., Bradley A., Baldini A. TBX1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 410:2001;97-101
14. McDonald-McGinn D.M., Kirschner R., Goldmuntz E., Sullivan K., Eicher P., Gerdes M., Moss E., Solot C., Wang P., Jacobs I., Handler S., Knightly C., Heher K., Wilson M., Ming J.E., Grace K., Driscoll D., Pasquariello P., Randall P., Larossa D., Emanuel B.S., Zackai E.H. The Philadelphia story. The 22q11.2 deletion: report on 250 patients. Genet. Couns. 10:1999;11-24
15. Merscher S., Funke B., Epstein J.A., Heyer J., Puech A., Lu M.M., Xavier R.J., Demay M.B., Russell R.G., Factor S., Tokooya K., Jore B.S., Lopez M., Pandita R.K., Lia M., Carrion D., Xu H., Schorle H., Kobler J.B., Scambler P., Wynshaw-Boris A., Skoultchi A.I., Morrow B.E., Kucherlapati R. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 104:2001;619-629
16. Rauch A., Devriendt K., Koch A., Rauch R., Gewillig M., Kraus C., Weyand M., Singer H., Hofbeck M., Reis A. Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients. J. Med. Genet. 41:2004;e40
17. Ryan A.K., Goodship J.A., Wilson D.I., Philip N., Levy A., Seidel H., Schuffenhauer S., Oechsler H., Belohradsky B., Prieur M., Aurias A., Raymond F.L., Clayton-Smith J., Hatchwell E., McKeown C., Beemer F.A., Dallapiccola B., Novelli G., Hurst J.A., Ignatius J., Green A.J., Winter R.M., Brueton L., Brondum-Nielsen K., Scambler P.J., et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J. Med. Genet. 34:1997;798-804
18. Stalmans I., Lambrechts D., De Smet F., Jansen S., Wang J., Maity S., Kneer P., Von Der Ohe M., Swillen A., Maes C., Gewillig M., Molin D.G., Hellings P., Boetel T., Haardt M., Compernolle V., Dewerchin M., Plaisance S., Vlietinck R., Emanuel B., Gittenberger-De Groot A.C., Scambler P., Morrow B., Driscol D.A., Moons L., Esguerra C.V., Carmeliet G., Behn-Krappa A., Devriendt K., Collen D., Conway S.J., Carmeliet P. VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat. Med. 9:2003;173-182
19. Taddei I., Morishima M., Huynh T., Lindsay E.A. Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes. Proc. Natl. Acad. Sci. USA. 98:2001;11428-11431
20. Vincent M.C., Heitz F., Tricoire J., Bourrouillou G., Kuhlein E., Rolland M., Calvas P. 22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes. Genet. Couns. 10:1999;43-49
21. Vitelli F., Taddei I., Morishima M., Meyers E.N., Lindsay E.A., Baldini A. A genetic link between TBX1 and fibroblast growth factor signaling. Development. 129:2002;4605-4611
22. Yagi H., Furutani Y., Hamada H., Sasaki T., Asakawa S., Minoshima S., Ichida F., Joo K., Kimura M., Imamura S., Kamatani N., Momma K., Takao A., Nakazawa M., Shimizu N., Matsuoka R. Role of TBX1 in human del22q11.2 syndrome. Lancet. 362:2003;1366-1373
23. Yamagishi H., Ishii C., Maeda J., Kojima Y., Matsuoka R., Kimura M., Takao A., Momma K., Matsuo N. Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am. J. Med. Genet. 78:1998;319-321