A recognizable syndrome or genetic disorder was identified in 14 children (15.4%), of which 8 children (9%) were thought to be causative of PDD (5 children with Rett syndrome, 2 with fragile X syndrome, and 1 with velocardiofacial syndrome [VCFS]).
Deletions of proximal 22q11.2 comprise the most frequently occurring microdeletion syndrome, DiGeorge/Velocardiofacial syndrome (DGS/VCFS), in which most breakpoints have been localized to a 3 Mb region containing four large LCRs.
Here, we show that mesoderm specific deletion of Tbx1, a T-box transcription factor and gene for velo-cardio-facial/DiGeorge syndrome, results in defects in formation of the proximal mandible by shifting expression of Fgf8, Bmp4 and their downstream effector genes in mouse embryos at E10.5.
By providing functional data to indicate loss-of-function produced by the 1223delCTBX1 mutation, our results provide strong support for the conclusion that TBX1 mutations can cause DGS in humans.
A recent study in a small sample of patients with velo-cardio-facial syndrome who had bipolar affective disorder suggested that the Met (low activity) COMT allele might be associated with rapid-cycling in this population.
A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome).
A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome).
Of special interest is the role of this gene in major psychoses especially since a microdeletion (22q11) containing the COMT gene (velo-cardio-facial syndrome) also carries with it several types of behavioral disorders, including an increased prevalence of schizophrenia.
One of these is its biochemical function in metabolism of catecholamine neurotransmitters; another is the microdeletion, on chromosome 22q11, that includes the COMT gene and causes velocardiofacial syndrome, a syndrome associated with a high rate of psychosis, particularly schizophrenia.
These data suggest that the COMT gene does not play a major role in the pathogenesis of schizophrenia, and the genotypic overlap between schizophrenia and velocardiofacial syndrome was rare in this cohort.
Velocardiofacial syndrome is a genetic disorder associated with a microdeletion on the long arm of chromosome 22, and this segment is responsible for coding catechol-O-methyltransferase, an enzyme involved in dopamine degradation.
Mice hemizygous at the Tbx1 locus show a remarkable incidence of heart outflow tract anomalies, of the same type commonly found in DiGeorge/Velo-cardio-facial syndrome (DGS/VCFS).
These include the 3-Mb region commonly deleted in DiGeorge/velocardiofacial syndrome (DGS/VCFS), the cat eye syndrome (CES) region, and more distal regions in 22q11 that have recently been shown to be deleted.
This report describes a newborn girl presenting with some of the common features of DiGeorge syndrome/velocardiofacial syndrome (DGS/VCFS), including hypocalcemia, atrial septal defect, and aortic stenosis.
FISH studies using 4 locus-specific DNA probes in the 22q11.2 region (N25 probe to detect the D22S75 locus within the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) critical region, a clone to detect the Bid locus just distal to the cat eye syndrome (CES) critical region and two clones 77H2 and 109L3 to detect the proximal end of the CES critical region, (CECR2 and CECR7), did not reveal any hybridization signal with the marker chromosome.
Cytogenetic and FISH analysis was performed in 139 patients to detect the pathognomonic of Di George/ Velocardiofacial syndrome (DGS/VFCS) deletion 22q11.2.
The low-copy repeat (LCR) is a new class of repetitive DNA element and has been implicated in many human disorders, including DiGeorge/velocardiofacial syndrome (DGS/VCFS).