Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse models

Trends in Genetics

Volumn 17, Issue 10, 2001, Pages 551-554

  Botta, Annalisa ^a   Amati, Francesca ^a   Novelli, Giuseppe ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

T BOX TRANSCRIPTION FACTOR;

ARTICLE; CHROMOSOME 16; CHROMOSOME 22Q; CHROMOSOME DELETION; DIGEORGE SYNDROME; GENE LOCUS; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; SYNTENY;

ANIMALIA;

EID: 0035479014     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-9525(01)02438-6     Document Type: Review

References (26)

1. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
2. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
3. Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome
4. Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11
5. TBX1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
6. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene
7. Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11
8. Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome
9. Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome
10. Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region
11. Comparative sequence analysis of 634-kb of the mouse chromosome 16 region of conserved synteny with the human velocardiofacial syndrome region on chromosome 22q11.2
12. Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation
13. Congenital heart disease in mice deficient for the DiGeorge syndrome region
14. Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse
15. Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex change in gene organization
16. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
17. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge Syndrome
18. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
19. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome
20. Holt-Oram syndrome is caused by mutation in TBX5, a member of the Brachiury (T) gene family
21. The DNA sequence of human chromosome 22
22. Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome
23. UFD1L and CDC45L, a role in DiGeorge syndrome and related phenotypes?
24. Position effect in human genetic disease
25. Modulation of a transcription factor counteracts heterochromatic gene silencing in Drosophila