Role of TBX1 in human del22q11.2 syndrome

@article{Yagi2003RoleOT,
  title={Role of TBX1 in human del22q11.2 syndrome},
  author={H. Yagi and Y. Furutani and H. Hamada and Takashi Sasaki and S. Asakawa and S. Minoshima and F. Ichida and Kunitaka Joo and M. Kimura and S. Imamura and N. Kamatani and K. Momma and A. Takao and M. Nakazawa and N. Shimizu and R. Matsuoka},
  journal={The Lancet},
  year={2003},
  volume={362},
  pages={1366-1373}
}
BACKGROUND Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome, with an incidence of 1 in 4000-5000 livebirths. It is characterised by a 3-Mb deletion on chromosome 22q11.2, cardiac abnormalities, T-cell deficits, cleft palate facial anomalies, and hypocalcaemia. At least 30 genes have been mapped to the deleted region. However, the association of these genes with the cause of this syndrome is not clearly understood. METHODS To test for the chromosomal deletion… Expand
Phenotypic variability of atypical 22q11.2 deletions not including TBX1
TLDR
The possible roles of a position effect or haploinsufficiency of distally located genes (e.g., CRKL) in the molecular pathogenesis of the 22q11.2 deletion syndrome are discussed and the clinical features of these patients are described and compared to those found in the classic 22q 11.2. Expand
Co‐occurrence of 22q11 deletion syndrome and hdr syndrome
TLDR
This is the first known case report of the co‐occurrence of 22q11 deletion syndrome and HDR syndrome, and the importance of carrying out careful clinical and genetic assessment of patients with atypical clinical phenotypes or unique complications is indicated. Expand
Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects
TLDR
The findings indicate that other genes or gene interactions may play a role in penetrance or the severity of heart disease among patients with DGS. Expand
The 22q11.2 deletion syndrome.
  • H. Yamagishi
  • Biology, Medicine
  • The Keio journal of medicine
  • 2002
TLDR
The clinical features and management of patients with 22q11DS are integrated with the current understanding of the embryological and molecular basis of this syndrome, as presented at the 1235th Meeting of The Keio Medical Society. Expand
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
TLDR
This study demonstrates that the implementation of array-CGH into the panel of classic diagnostic procedures adds significantly to their efficacy and allows for detection of constitutional genomic imbalances in 12 % of subjects with negative result of karyotype and FISH targeted for 22q11.2 region. Expand
Genetic characterisation of 22q11.2 variations and prevalence in patients with congenital heart disease
TLDR
The genotype-phenotype relationship analysis suggests that genetic detection of 22q11.2 may become necessary in all patients with CHD and that detection of unique deletions or amplifications may provide useful insight into personalised management in patients withCHD. Expand
22q11.2 deletion syndrome
TLDR
22q11.2 deletion syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Expand
Molecular genetics of 22q11.2 deletion syndrome
TLDR
Current genome‐wide efforts to identify genes mapping to the 22q11.2 region that could shed light on molecular pathways required for normal human development, cognition or behavior are discussed. Expand
Evidence for Involvement of GNB1L in Autism
  • Ying-Zhang Chen, M. Matsushita, +16 authors Z. Brkanac
  • Biology, Medicine
  • American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  • 2012
TLDR
The findings support involvement of GNB1L in ASDs as well and identify an individual with a balanced translocation 46,XY,t(1;22)(p36.1;q11.2) and a behavioral phenotype characterized by cognitive impairment, autism, and schizophrenia in the absence of congenital malformations. Expand
Microduplication 22q11.2: a new chromosomal syndrome.
  • M. Portnoï
  • Biology, Medicine
  • European journal of medical genetics
  • 2009
TLDR
Ch Chromosome duplication of the region that is deleted in patients with DGS/VCFS has been reported, establishing a new genomic duplication syndrome complementary to the 22q11.2 deletion syndrome, and TBX1 gain-of-function mutations, resulting in the same phenotypic spectrum as haploinsufficiency caused by loss of function mutations or deletions have been observed. Expand
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TLDR
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TLDR
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TLDR
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