Toward a genetic etiology of CHARGE syndrome

I. A systematic scan for submicroscopic deletions

Seema R. Lalani, David W. Stockton, Carlos Bacino, Laura M. Molinari, Nancy L. Glass, Susan D. Fernbach, Jeffrey Towbin, William J. Craigen, John M. Graham, Margaret A. Hefner, Angela E. Lin, Kim L. McBride, Sandra L. Davenport, John W. Belmont

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

CHARGE syndrome is a distinctive subgroup within the more heterogeneous group of patients with CHARGE association. While significant progress has been made in the clinical delineation of this syndrome, the molecular basis of the disorder remains unknown. Based on the complex phenotype, some overlap with DiGeorge/velocardiofacial syndrome (DGS/VCFS), and its estimated population incidence, we hypothesized that CHARGE syndrome could be caused by an unidentified genomic microdeletion. In order to address this hypothesis, we carried out a genome-wide screen for loss of expected heterozygosity using 811 microsatellite markers in ten CHARGE syndrome subjects and their unaffected parents. Eight markers gave results suggestive of failure to inherit one parental allele. These loci were tested with fluorescence in situ hybridization (FISH), but none showed evidence of deletion. This screen sets upper limits on the length of a CHARGE-related microdeletion, should that be the genetic mechanism underlying the phenotype.

Original languageEnglish (US)
Pages (from-to)260-266
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume118 A
Issue number3
StatePublished - Apr 30 2003
Externally publishedYes

Fingerprint

CHARGE Syndrome
DiGeorge Syndrome
Phenotype
Loss of Heterozygosity
Fluorescence In Situ Hybridization
Microsatellite Repeats
Parents
Alleles
Genome
Incidence
Population

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Lalani, S. R., Stockton, D. W., Bacino, C., Molinari, L. M., Glass, N. L., Fernbach, S. D., ... Belmont, J. W. (2003). Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. American Journal of Medical Genetics, 118 A(3), 260-266.

Toward a genetic etiology of CHARGE syndrome : I. A systematic scan for submicroscopic deletions. / Lalani, Seema R.; Stockton, David W.; Bacino, Carlos; Molinari, Laura M.; Glass, Nancy L.; Fernbach, Susan D.; Towbin, Jeffrey; Craigen, William J.; Graham, John M.; Hefner, Margaret A.; Lin, Angela E.; McBride, Kim L.; Davenport, Sandra L.; Belmont, John W.

In: American Journal of Medical Genetics, Vol. 118 A, No. 3, 30.04.2003, p. 260-266.

Research output: Contribution to journalArticle

Lalani, SR, Stockton, DW, Bacino, C, Molinari, LM, Glass, NL, Fernbach, SD, Towbin, J, Craigen, WJ, Graham, JM, Hefner, MA, Lin, AE, McBride, KL, Davenport, SL & Belmont, JW 2003, 'Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions', American Journal of Medical Genetics, vol. 118 A, no. 3, pp. 260-266.
Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD et al. Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. American Journal of Medical Genetics. 2003 Apr 30;118 A(3):260-266.
Lalani, Seema R. ; Stockton, David W. ; Bacino, Carlos ; Molinari, Laura M. ; Glass, Nancy L. ; Fernbach, Susan D. ; Towbin, Jeffrey ; Craigen, William J. ; Graham, John M. ; Hefner, Margaret A. ; Lin, Angela E. ; McBride, Kim L. ; Davenport, Sandra L. ; Belmont, John W. / Toward a genetic etiology of CHARGE syndrome : I. A systematic scan for submicroscopic deletions. In: American Journal of Medical Genetics. 2003 ; Vol. 118 A, No. 3. pp. 260-266.
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