Human Molecular Genetics, Vol 6, 267-276, Copyright © 1997 by Oxford University Press
W Gong, BS Emanuel, N Galili, DH Kim, B Roe, DA Driscoll and ML Budarf
The majority of patients with DiGeorge syndrome (DGS), velocardiofacial
syndrome (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 > 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.
ARTICLES
Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA, USA.
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