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Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes, including conotruncal heart defects, cleft palate, and facial dysmorphology. Hemizygosity for a portion of chromosome 22q11 has been detected in 80-85% of VCFS/DGS patients. Both syndromes are thought to be the result of a developmental field defect. Using two independent gene-isolation procedures, we isolated a new catenin family member termed ARVCF (armadillo repeat gene deleted in VCFS) from the interval deleted in VCFS. ARVCF encodes a protein of 962 amino acids that contains a coiled coil domain and 10 tandem armadillo repeats. The primary structure of the protein is most closely related to the murine catenin p120CAS, which suggests a role for ARVCF in protein-protein interactions at adherens junctions. ARVCF is expressed ubiquitously in all fetal and adult tissues examined. This gene is hemizygous in all VCFS patients with interstitial deletions. Based on the physical location and potential functions of ARVCF, we suggest that hemizygosity at this locus may play a role in the etiology of some of the phenotypes associated with VCFS.

Type

Journal article

Journal

Genomics

Publication Date

01/04/1997

Volume

41

Pages

75 - 83

Keywords

Abnormalities, Multiple, Adult, Amino Acid Sequence, Animals, Base Sequence, Catenins, Cell Adhesion Molecules, Cleft Palate, Conserved Sequence, Cytoskeletal Proteins, DNA, Complementary, DiGeorge Syndrome, Face, Fetus, Gene Deletion, Gene Expression, Heart Defects, Congenital, Humans, Mice, Molecular Sequence Data, Multigene Family, Phenotype, Phosphoproteins, Species Specificity, Syndrome