TBX1

(redirected from VCFS)
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TBX1

A gene on chromosome 22q11.21 that encodes a DNA-binding member of the phylogenetically conserved family of genes that have a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in regulating development.
 
Molecular pathology
TBX1 deletions are associated with DiGeorge/velocardiofacial syndrome, which is characterised by neural-crest developmental defects.
References in periodicals archive ?
23-24) It was concluded that craniostenosis should be included in the diagnostic criteria of VCFS.
His diagnosis of VCFS was confirmed through genetic analysis, prompted by his meeting several of the Bassett criteria, including the facial dysmorphic features of a prominent nose, small chin, high hard palate, small malformed teeth and low-set ears, and a congenital heart defect.
Dysmorphic features in VCFS include mild auricular abnormalities, hooded eyelids, a tubular-shaped nose, a broad nose tip, a small mouth, and slender and/or tapering fingers.
PLC has not been described in schizophrenia, but we hypothesise that the PLC may be attributed to VCFS and that the same pathways implicated in neurological causes of PLC may be affected in VCFS.
However, the gene or genes responsible for VCFS have yet to be identified.
The behavioral phenotype of VCFS is summarized below with emphasis on intellectual disability and psychiatric disorders.
11) used the fluorescence in situ hybridization (FISH) technique to identify the microdeletion of VCFS in 74 people who had a history of psychotic disorder, family history of psychotic disorder, cleft palate and/or lip, congenital heart disease, facial dysmorphism or a history of hypocalcemia, as markers for VCFS.
Children with VCFS are reported to be withdrawn, have poor communication skills and reduced variability of facial expression.
The new study, described in the December American Journal of Psychiatry, included psychiatric evaluations and reviews of medical records for 25 people diagnosed with VCFS.
Some people with VCFS had appeared to be schizophrenic because of the severity of their untreated mania.
In the VCFS sample, however, this psychiatric disorder was far more common and typically began at age 12.
He and his colleagues plan to examine deletions of this gene more extensively, both in people with VCFS and the population at large.