22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system

@article{Restivo200622q11DS,
  title={22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system},
  author={Angelo Restivo and Anna Sarkozy and Maria Cristina Digilio and Bruno Dallapiccola and Bruno Marino},
  journal={Journal of Cardiovascular Medicine},
  year={2006},
  volume={7},
  pages={77–85}
}
The morphology and molecular genetics of the 22q11 deletion syndrome cardiovascular anomalies are reviewed. Special emphasis is given to TBX1, recently identified and considered to be the potential key gene for this clinical syndrome. The TBX1 downstream molecular pathways modulating the normal development of the pharyngeal apparatus are also discussed, and emphasis is given to the possible, equally fundamental role of downstream molecular pathway disruption in causing the clinical 22q11… Expand
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References

SHOWING 1-10 OF 73 REFERENCES
DiGeorge syndrome: the use of model organisms to dissect complex genetics.
  • A. Baldini
  • Medicine, Biology
  • Human molecular genetics
  • 2002
TLDR
Experiments in mice indicate that genetics can only explain part of the phenotypic variability in patients with DiGeorge syndrome, and the recent identification of phenotypesic modifiers further underscores the complex genetics of this syndrome. Expand
A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects.
TLDR
Data suggest that UFD1L haploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11 deletion. Expand
TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome
TLDR
A major role is suggested for this gene in the molecular etiology of VCFS/DGS using a cre-loxP strategy to generate mice that are hemizygous for a 1.5-3.0 Mb deletion corresponding to that on 22q11. Expand
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
TLDR
The data show that haploinsufficiency of Tbx1 is sufficient to generate at least one important component of the DiGeorge syndrome phenotype in mice, and demonstrate the suitability of the mouse for the genetic dissection of microdeletion syndromes. Expand
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
TLDR
It is proposed that TBX1 in humans is a key gene in the etiology of DGS/VCFS, with mice heterozygous for the mutation having a high incidence of cardiac outflow tract anomalies, thus modeling one of the major abnormalities of the human syndrome. Expand
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
TLDR
Haploinsufficiency of two T box genes, TBX3 and TBX5 , are associated with the human genetic diseases ulnar-mammary syndrome and Holt-Oram syndrome, respectively, and over 20 genes have been mapped to the deleted region. Expand
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.
TLDR
Data suggest that the proteolytic pathway that recognizes ubiquitin fusion proteins for degradation is conserved in vertebrates and that the UFD1L gene hemizygosity is the cause of some of the CATCH 22-associated developmental defects. Expand
A deletion in chromosome 22 can cause digeorge syndrome
TLDR
Data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11. Expand
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
TLDR
A previously unrecognized and novel nuclear localization signal (NLS) at the C-terminus of Tbx1 that is deleted by the 1223delC TBX1 mutation is identified, thus explaining the mechanism of disease in patients with DiGeorge syndrome. Expand
Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.
TLDR
It is shown that Tbx1 deficiency causes a number of distinct vascular and heart defects, suggesting multiple roles in cardiovascular development - specifically formation and growth of the pharyngeal arch arteries, growth and septation of the outflow tract of the heart, interventricular septations, and conal alignment. Expand
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