A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions

Birgit H. Funke, Alison C. Brown, Marco F. Ramoni, Maura E. Regan, Chris Baglieri, Christine T. Finn, Melanie Babcock, Robert J. Shprintzen, Bernice E. Morrow, Raju Kucherlapati

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Velocardiofacial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome, now collectively referred to as 22q11 deletion syndrome (22q11DS) are caused by microdeletions on chromosome 22q11. The great majority (∼90%) of these deletions are 3 Mb in size. The remaining deleted patients have nested breakpoints resulting in overlapping regions of hemizygosity. Diagnostic testing for the disorder is traditionally done by fluorescent in situ hybridization (FISH) using probes located in the proximal half of the region common to all deletions. We developed a novel, high-resolution single-nucleotide polymorphism (SNP) genotyping assay to detect 22q11 deletions. We validated this assay using DNA from 110 nondeleted controls and 77 patients with 22q11DS that had previously been tested by FISH. The assay was 100% sensitive (all deletions were correctly identified). Our assay was also able to detect a case of segmental uniparental disomy at 22q11 that was not detected by the FISH assay. We used Bayesian networks to identify a set of 17 SNPs that are sufficient to ascertain unambiguously the deletion status of 22q11DS patients. Our SNP based assay is a highly accurate, sensitive, and specific method for the diagnosis of 22q11 deletion syndrome.

Original languageEnglish (US)
Pages (from-to)91-100
Number of pages10
JournalGenetic Testing
Volume11
Issue number1
DOIs
StatePublished - Mar 2007
Externally publishedYes

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22q11 Deletion Syndrome
DiGeorge Syndrome
Single Nucleotide Polymorphism
Fluorescence In Situ Hybridization
Uniparental Disomy
Chromosomes
DNA

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Funke, B. H., Brown, A. C., Ramoni, M. F., Regan, M. E., Baglieri, C., Finn, C. T., ... Kucherlapati, R. (2007). A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions. Genetic Testing, 11(1), 91-100. https://doi.org/10.1089/gte.2006.0507

A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions. / Funke, Birgit H.; Brown, Alison C.; Ramoni, Marco F.; Regan, Maura E.; Baglieri, Chris; Finn, Christine T.; Babcock, Melanie; Shprintzen, Robert J.; Morrow, Bernice E.; Kucherlapati, Raju.

In: Genetic Testing, Vol. 11, No. 1, 03.2007, p. 91-100.

Research output: Contribution to journalArticle

Funke, BH, Brown, AC, Ramoni, MF, Regan, ME, Baglieri, C, Finn, CT, Babcock, M, Shprintzen, RJ, Morrow, BE & Kucherlapati, R 2007, 'A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions', Genetic Testing, vol. 11, no. 1, pp. 91-100. https://doi.org/10.1089/gte.2006.0507
Funke BH, Brown AC, Ramoni MF, Regan ME, Baglieri C, Finn CT et al. A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions. Genetic Testing. 2007 Mar;11(1):91-100. https://doi.org/10.1089/gte.2006.0507
Funke, Birgit H. ; Brown, Alison C. ; Ramoni, Marco F. ; Regan, Maura E. ; Baglieri, Chris ; Finn, Christine T. ; Babcock, Melanie ; Shprintzen, Robert J. ; Morrow, Bernice E. ; Kucherlapati, Raju. / A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions. In: Genetic Testing. 2007 ; Vol. 11, No. 1. pp. 91-100.
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