DiGeorge II LPU015 - Detail

DiGeorge syndrome1 and a variety of congenital malformation syndromes, including Velocardiofacial (VCFS)² share the deletion of chromosome 22 at 22q11^2,3,4,5. However deletions on 10p13.14 have been shown in some patients with DGS^6,7,8.

The deletion of the DGS2 locus on 10p may be 50 times less frequent than the deletion of the DGS1 locus on 22q and may be estimated to occur in 1 in 200,000 live births⁹. A gene called BRUNOL3 has been identified within the 300kb minimal region of DGS2 and postulated to be involved in DGS2 deletion¹⁰. It is a candidate gene for the heart defect and thymus hypoplasia/aplasia associated with partial monosomy 10p¹⁰. This gene may be involved in atrial septal defects (ASD) which is a common cardiac anomaly associated with DGS2¹¹.

Reference:/Bibliographie/Literatur/Bibliografia

1. DiGeorge, A.M. (1965) J Pediatr 67: 907
2. Shprintzen, R.J. et al (1978) Cleft Palate J 15: 56-62
3. Wilson, D.I. et al (1993) J Med Genet 30: 852-856
4. Driscoll, D.A. et al (1992) J Med Genet 50: 924-933
5. Burn, J. (1993) ibid., p.822
6. Schuffenhouer, S. et al (1995) Ann Genet 38 (3): 162-167
7. Daw, S.C. et al (1996) Nat Genet 13 : 458-460
8. Dasouki, M. et al (1997) Am J Med Genet 73 (1): 72-75
9. Berend, S.A. et al (2000) Am J Med Genet 91(4) : 313-317
10. Lichtner, P. et al (2002) J Mol Med 80:431-442
11. Yatsenko, S.A. et al (2004) Clin Genet 66:128-136