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The majority of patients with DiGeorge syndrome (DGS), velocardiofacial syndr ome (VCFS), conotruncal anomaly face syndrome (CTAFS) and some individuals with familial or sporadic conotruncal cardiac defects have hemizygous deletions of chromosome 22. Most patients with these disorders share a common large deletion, spanning &gt;1.5 Mb within 22q11.21–q11.23. Recently, the smallest region of deletion overlap has been narrowed to a 250 kb area, the minimal DGS critical region (MDGCR), which includes the locus  D22S75  (N25). We have isolated and characterized a novel, highly conserved gene,  DGSI , within the MDGCR.  DGSI  has 10 exons and nine introns encompassing 1702 bp of cDNA sequence and 11 kb of genomic DNA. The encoded protein has 476 amino acids with a predicted mol. wt of 52.6 kDa. The intron-exon boundaries have been analyzed and conform to the consensus GT/AG motif. The corresponding murine  Dgsi  has been isolated and localized to proximal mouse chromosome 16. The mouse gene contains the same number of exons and introns, and the predicted protein has 479 amino acids with 93.2% identity to that of the human  DGSI  gene. By database searching, both genes have significant homology to a  Caenorhabditis elegans  hypothetical protein, F42H10.7. Further, mutation analysis has been performed in 16 patients, who have no detectable 22q11.2 deletion and some of the characteristic clinical features of DGS/ VCFS. We have detected eight sequence variants in  DGSI . These occurred in the 5′-untranslated region, the coding region and the intronic regions adjacent to the intron-exon boundaries of the gene. Seven of the eight variants were also present in normal controls or unaffected family members, suggesting they may not be of etiologic significance.

Structural and Mutational Analysis of a Conserved Gene ( DGSI ) from the Minimal DiGeorge Syndrome Critical Region