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Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries.

Dutra RL, Honjo RS, Kulikowski LD, Fonseca FM, Pieri PC, Jehee FS, Bertola DR, Kim CA - BMC Res Notes (2012)

Bottom Line: The results were concordant using both techniques, except for four patients whose microsatellite markers were uninformative.There were no clinical differences in relation to either the size or parental origin of the deletion.The microsatellite marker and MLPA techniques are effective in deletion detection in WBS, and both methods provide a useful diagnostic strategy mainly for developing countries.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Genetics, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil. roberta.dutra@icr.usp.br.

ABSTRACT

Background: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), mental retardation, and overfriendliness comprise typical symptoms of WBS. Although fluorescence in situ hybridization (FISH) is considered the gold standard technique, the microsatellite DNA markers and multiplex ligation-dependent probe amplification (MLPA) could be used for to confirm the diagnosis of WBS.

Results: We have evaluated a total cohort of 88 patients with a suspicion clinical diagnosis of WBS using a collection of five markers (D7S1870, D7S489, D7S613, D7S2476, and D7S489_A) and a commercial MLPA kit (P029). The microdeletion was present in 64 (72.7%) patients and absent in 24 (27.3%) patients. The parental origin of deletion was maternal in 36 of 64 patients (56.3%) paternal in 28 of 64 patients (43.7%). The deletion size was 1.55 Mb in 57 of 64 patients (89.1%) and 1.84 Mb in 7 of 64 patients (10.9%). The results were concordant using both techniques, except for four patients whose microsatellite markers were uninformative. There were no clinical differences in relation to either the size or parental origin of the deletion.

Conclusion: MLPA was considered a faster and more economical method in a single assay, whereas the microsatellite markers could determine both the size and parental origin of the deletion in WBS. The microsatellite marker and MLPA techniques are effective in deletion detection in WBS, and both methods provide a useful diagnostic strategy mainly for developing countries.

No MeSH data available.


Related in: MedlinePlus

Comparison between the results obtained by microsatellite markers and MLPA. A total of 88 patients participated of the study and numbered 1 to 107. The correspondent probe to gene FZD9 is localized in the same region that D7S489 microsatellite marker.
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Figure 3: Comparison between the results obtained by microsatellite markers and MLPA. A total of 88 patients participated of the study and numbered 1 to 107. The correspondent probe to gene FZD9 is localized in the same region that D7S489 microsatellite marker.

Mentions: The microsatellite markers used in the present study, are located in different regions in comparison with the probes in the P029 kit for WBS (Figure 2). Except the D7S489 marker and the FZD9 probe from MLPA P029 kit that are in the same position (Figure 3). Considering both techniques, there was no clinical difference in relation to either the size of deletion or the parental origin of deletion.


Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries.

Dutra RL, Honjo RS, Kulikowski LD, Fonseca FM, Pieri PC, Jehee FS, Bertola DR, Kim CA - BMC Res Notes (2012)

Comparison between the results obtained by microsatellite markers and MLPA. A total of 88 patients participated of the study and numbered 1 to 107. The correspondent probe to gene FZD9 is localized in the same region that D7S489 microsatellite marker.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3285034&req=5

Figure 3: Comparison between the results obtained by microsatellite markers and MLPA. A total of 88 patients participated of the study and numbered 1 to 107. The correspondent probe to gene FZD9 is localized in the same region that D7S489 microsatellite marker.
Mentions: The microsatellite markers used in the present study, are located in different regions in comparison with the probes in the P029 kit for WBS (Figure 2). Except the D7S489 marker and the FZD9 probe from MLPA P029 kit that are in the same position (Figure 3). Considering both techniques, there was no clinical difference in relation to either the size of deletion or the parental origin of deletion.

Bottom Line: The results were concordant using both techniques, except for four patients whose microsatellite markers were uninformative.There were no clinical differences in relation to either the size or parental origin of the deletion.The microsatellite marker and MLPA techniques are effective in deletion detection in WBS, and both methods provide a useful diagnostic strategy mainly for developing countries.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Genetics, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil. roberta.dutra@icr.usp.br.

ABSTRACT

Background: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), mental retardation, and overfriendliness comprise typical symptoms of WBS. Although fluorescence in situ hybridization (FISH) is considered the gold standard technique, the microsatellite DNA markers and multiplex ligation-dependent probe amplification (MLPA) could be used for to confirm the diagnosis of WBS.

Results: We have evaluated a total cohort of 88 patients with a suspicion clinical diagnosis of WBS using a collection of five markers (D7S1870, D7S489, D7S613, D7S2476, and D7S489_A) and a commercial MLPA kit (P029). The microdeletion was present in 64 (72.7%) patients and absent in 24 (27.3%) patients. The parental origin of deletion was maternal in 36 of 64 patients (56.3%) paternal in 28 of 64 patients (43.7%). The deletion size was 1.55 Mb in 57 of 64 patients (89.1%) and 1.84 Mb in 7 of 64 patients (10.9%). The results were concordant using both techniques, except for four patients whose microsatellite markers were uninformative. There were no clinical differences in relation to either the size or parental origin of the deletion.

Conclusion: MLPA was considered a faster and more economical method in a single assay, whereas the microsatellite markers could determine both the size and parental origin of the deletion in WBS. The microsatellite marker and MLPA techniques are effective in deletion detection in WBS, and both methods provide a useful diagnostic strategy mainly for developing countries.

No MeSH data available.


Related in: MedlinePlus