DiGeorge/VCFS TUPLE1 Region probe and 22q13.3 Deletion Syndrome Probe

TUPLE1: Red Fluorophore
22q Subtelomere Specific Probe (clone N85A3): Green Fluorophore

DiGeorge, Velocardiofacial (VCFS), and Conotruncal Anomaly Face syndromes (CATCH22) are characterised by a microdeletion in band 22q11.2. The incidence of these deletions is around 1:4000 making it one of the most common genetic defects. The 2 Mb DiGeorge Critical Region is deleted in up to 90% of patients, whilst a minimal critical region of 480-575 Kb contains the TUPLE1 (HIRA) gene, which is proposed to be responsible for the observed phenotype.

The DiGeorge/VCFS TUPLE1 Region probe encompasses the entire TUPLE1 gene and flanking DNA. It is directly labelled with a red fluorophore (Texas Red spectrum) and accompanied with a 22q subtelomere specific probe (clone n85a3) labelled with a green fluorophore (FITC spectrum).

The 22q subtelomere specific probe (clone n85a3) can be used to detect deletions involved in the 22q13.3 Deletion Syndrome. The clone n85a3 contains the ProSAP2/SHANK3 gene, coding for a structural protein of the postsynaptic density of excitation synapses and expressed in the cortex and cerebellum. This gene is proposed to be a good candidate gene for the 22q13.3 Deletion Syndrome.