Identification of candidate genes for congenital ventricular septal defects with HSA22q11 loss of heterozygosity.

@article{Lee2009IdentificationOC,
  title={Identification of candidate genes for congenital ventricular septal defects with HSA22q11 loss of heterozygosity.},
  author={Cheng-Liang Lee and Kai-Sheng Hsieh and Yi-Ling Chen and Yow-Ling Shiue},
  journal={Revista espanola de cardiologia},
  year={2009},
  volume={62 3},
  pages={
          263-72
        }
}
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References

SHOWING 1-10 OF 52 REFERENCES
Genetic analysis of chromosome 22q11.2 markers in congenital heart disease
TLDR
The results show that as regards the distribution of allelic size and frequency of these STRP markers, there were no significant differences between the CHD patients and the normal volunteers, and this indicates that there is no linkage disequilibrium with these markers in CHD.
Association of tetralogy of Fallot with a distinct region of del22q11.2.
TLDR
The findings support an association between TOF and hemizygosity in 22q11.2, suggesting a distinct region, between markers D22S1638 and COMT, that may harbor TOF susceptibility genes.
Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies.
TLDR
Testing for a chromosome 22q11 deletion is common in individuals with a conoventricular, posterior malalignment, or conoseptal hypoplasia VSD and anomalies of the aortic arch or branch pulmonary arteries and should be performed routinely or guided by the presence of associated noncardiovascular features of chromosome 22Q11 deletion syndrome.
Molecular Characterization of Chromosome 22 Deletions by Short Tandem Repeat Polymorphism (STRP) in Patients with Conotruncal Heart Defects
TLDR
A polymerase chain reaction-based non-radioactive method for molecular analysis of the 22q11.2 region in conotruncal cardiac patients with conotrunscal defects found no correlation between the sizes and the parental origin of deletions and cardiac or extra-cardiac phenotypes.
Role of TBX1 in human del22q11.2 syndrome
Molecular genetics of congenital heart disease.
  • B. Gelb
  • Medicine, Biology
    Current opinion in cardiology
  • 1997
TLDR
The zebrafish has emerged as an important model for the study of the earliest stages of the cardiovascular system, and the miles apart and gridlock mutants, which have failure of heart tube fusion and aortic atresia, respectively, are discussed.
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
TLDR
It is concluded that TBX1 gain-of-function mutations can result in the same phenotypic spectrum as haploinsufficiency caused by loss of function mutations or deletions.
Frequency of 22q11 deletions in patients with conotruncal defects.
Chromosome 10p13-14 and 22q11 deletion screening in 100 patients with isolated and syndromic conotruncal heart defects
TLDR
The presence of a characteristic 3 Mb microdeletion on chromosome 22q11 in 70-90% of these patients indicates a common genetic aetiology, and the Tbx I transcription factor in the critical region appears to be responsible for the aortic arch defects.
Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome
TLDR
It is concluded that germline mosaicism as the underlying mechanism for affected cousins in these families was unlikely and relatives of affected individuals may benefit from genetic counselling and consider prenatal testing for the 22q11.2 deletion in future pregnancies, despite a low recurrence risk.
...
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