Apr 1, 1995

Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity

Human Molecular Genetics
S DemczukA Aurias


Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. A DiGeorge syndrome patient bearing a balanced translocation whose breakpoint maps within the critical region has been previously described. We report the construction of a cosmid contig spanning the translocation breakpoint and the isolation of a gene mapping 10 kb telomeric to the breakpoint. This gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome.

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Mentioned in this Paper

Homologous Sequences, Amino Acid
Shprintzen Syndrome
Conotruncal Heart Malformations (Disorder)
Genome Mapping
DGCR2 protein, human
Cell Adhesion
Chromosomes, Human, Pair 22
Membrane Glycoproteins
Platelet Membrane Glycoprotein V
Cell Surface Proteins

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