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Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA
1 Medical University, Department of Chemistry and Biochemistry, 2 Zdrave Street, Sofia 1431, Bulgaria
2 Genetic Medico-Diagnostic Laboratory "Genica", 90 Tzar Asen Street, Sofia 1463, Bulgaria
3 UZ Gasthuisberg, UZ Gasthuisberg herestraat 49, Leuven 3000, Belgium
4 MRC-Holland bv, Willem Schoutenstraat 6, Amsterdam 1057DN, Netherlands
5 Medical University Sofia, Paediatric Hospital, 7 Dimitar Nestorov Street, Sofia 1000, Bulgaria
Correspondence to:
Tihomir Todorov, tisho.todorov{at}abv.bg
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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