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  Gene dosage analysis in Silver-Russell syndrome: use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13

Mergenthaler, S., Sharp, A., Ranke, M. B., Kalscheuer, V. M., Wollmann, H. A., & Eggermann, T. (2001). Gene dosage analysis in Silver-Russell syndrome: use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13. Genet Test, 5(3), 261-6. doi:10.1089/10906570152742335.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0002-E021-B Version Permalink: http://hdl.handle.net/21.11116/0000-0002-E022-A
Genre: Journal Article

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Mergenthaler, S.1, Author
Sharp, A.1, Author
Ranke, M. B.1, Author
Kalscheuer, V. M.1, Author
Wollmann, H. A.1, Author
Eggermann, T.1, Author
Affiliations:
1Max Planck Society, ou_persistent13              

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Free keywords: Cell Nucleus/ultrastructure *Chromosomes, Human, Pair 7/physiology Fetal Growth Retardation *Gene Dosage *Gene Duplication Gene Frequency Humans In Situ Hybridization, Fluorescence/*methods Interphase Lymphocytes Polymerase Chain Reaction/*methods
 Abstract: Silver-Russell syndrome (SRS) describes a heterogeneous malformation syndrome mainly characterized by intrauterine and postnatal growth retardation (IUGR/PNGR). Approximately 10% of SRS cases have been associated with maternal uniparental disomy (matUPD) 7. This suggests the involvement of at least one imprinted gene on chromosome 7 in the pathogenesis of SRS. Additionally, two familial and one single SRS patients have been published with an interstitial duplication in 7p11.2-p13, including the genes GRB10 and IGFBP1; IGFBP3 was investigated in only one case revealing duplication; conversely, double gene dosage of EGFR was excluded in all 3 patients. Two further cytogenetically abnormal cases, one with a paracentric inversion (7)(p14p12) and one with matUPD7/partial trisomy for 7p13-q11, confirmed that the proximal short arm of chromosome represents an interesting region possibly harboring (a) candidate gene(s) for SRS. Although previously published investigations on the genes GRB10, IGFBP1, IGFBP3, and EGFR report neither disease-relevant mutations nor abnormal imprinting patterns, the SRS cases with chromosomal duplications suggest that variation of gene copy number might be a further type of mutation. To obtain meaningful results on the frequency of duplications in proximal 7p, we screened 32 SRS patients using quantitative PCR assays for GRB10, IGFBP1, IGFBP3, and EGFR. The data were confirmed by dual-color fluorescence in situ hybridization (FISH) of spot check samples. Results obtained by both methods exclude duplications in all analyzed patients and indicate an overall percentage of duplication among SRS patients between 2.4% (GRB10) and 5% (IGFBP1). By testing and evaluating quantitative competitive PCR for various loci, we developed a practical approach for gene dosage analysis which can be easily established for routine purposes.

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 Dates: 2001
 Publication Status: Published in print
 Pages: -
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 Rev. Type: -
 Identifiers: Other: 11788094
DOI: 10.1089/10906570152742335
ISSN: 1090-6576 (Print) 1090-6576 (Linking)
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Title: Genet Test
  Alternative Title : Genetic testing
Source Genre: Journal
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Pages: - Volume / Issue: 5 (3) Sequence Number: - Start / End Page: 261 - 6 Identifier: -