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Todorov T, Todorova A, Kirov A, et al. Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA. BMJ Case Rep. 2009;2009doi: 10.1136/bcr.06.2008.0139.
Todorov, T., Todorova, A., Kirov, A., Dimitrov, B., Carvalho, R., Nygren, A. O., Boneva, I., & Mitev, V. (2009). Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA. BMJ case reports, 2009. https://doi.org/10.1136/bcr.06.2008.0139
Todorov, Tihomir, et al. "Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA." BMJ case reports vol. 2009 (2009). doi: https://doi.org/10.1136/bcr.06.2008.0139
Todorov T, Todorova A, Kirov A, Dimitrov B, Carvalho R, Nygren AO, Boneva I, Mitev V. Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA. BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.06.2008.0139. Epub 2009 May 18. PMID: 21686918; PMCID: PMC3028058.
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BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.06.2008.0139. Epub 2009 May 18.

Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA.

BMJ case reports

Tihomir Todorov, Albena Todorova, Andrey Kirov, Boyan Dimitrov, Ralph Carvalho, Anders O H Nygren, Iliana Boneva, Vanyo Mitev

Affiliations

  1. Medical University, Department of Chemistry and Biochemistry, 2 Zdrave Street, Sofia 1431, Bulgaria.

PMID: 21686918 PMCID: PMC3028058 DOI: 10.1136/bcr.06.2008.0139

Abstract

We report on a fragile X mosaic male full mutation/normal allele detected by PCR and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). This combined analysis provides a diagnostic approach for fragile X syndrome (FXS). The method assesses the presence of expansion (full mutation), the CpG methylation status and could determine copy number changes (large deletions/duplications) along the FMR1 and FMR2 (fragile X mental retardation) genes. The method avoids detection of premutations, which makes it applicable for newborn screening. It can also be used in clarification of mosaic cases. The PCR results in our patient showed one normal allele; three repeats larger than his mother's one. The MS-MLPA showed hypermethylated full mutation pattern in the proband. Both results are compatible with FXS mosaic case full mutation/normal allele. The patient demonstrates atypical mild clinical manifestation of the disease, which correlates to the presence of a normal size allele in the patient's cells.

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