SALSA MLPA P189 CDKL5 probemix - 100 reactions

application: Rett syndrome, atypical
region: CDKL5 Xp22, NTNG1 1p13.3, ARX Xp22.1 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P189-100R

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Detailní popis SALSA MLPA P189 CDKL5 probemix - 100 reactions

P189-100R SALSA MLPA P189 CDKL5 probemix – 100 rxn

Classical Rett syndrome is caused by defects of the MECP2 gene. Although atypical Rett syndrome has a very similar phenotype, different genes are involved. Defects in the CDKL5 (= STK9) gene have been described to be one of the causes of atypical Rett syndrome in multiple studies. In addition, CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients (Archer et al., 2006, J Med Genet.). Recently a novel CDKL5 exon has been described that is present in brain specific transcripts: Fichou, Y. et al., 2011 J Hum Genet.  56:52-57. An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain. This new exon, which is referred to as exon 16b in the Fichou article, is located 1.2 kb before exon 19. Mutations in the ARX gene can also be a cause of infantile spasms and X-linked mental retardation.

The NTNG1 gene has also been reported to be a candidate gene for atypical Rett syndrome. In one patient with characteristic features of Rett syndrome, no mutations were found in either the MECP2 or the CDKL5 gene, but a translocation was detected in intron 6 of the NTNG1 gene (Borg et al., 2005, Eur J Hum Genet.). The frequency of NTNG1 mutations in these patients appears to be low (Archer et al., 2006, Am J Med Genet.). Recently, mutations in the FOXG1 gene have been associated with the congenital Rett syndrome variant (Ellaway et al., 2012 Eur J Hum Genet.; Allou et al., 2012 Eur J Hum Genet.).

The CDKL5 gene (23 exons) spans ~228 kb of genomic DNA and is located on Xp22.13, ~18.4 Mb from the p-telomere. The NTNG1 gene (6 exons) spans ~342 kb of genomic DNA and is located on 1p13.3, ~107.5 Mb from the p-telomere. The ARX gene (5 exons) spans ~12.2 kb of genomic DNA and is located on chromosome Xp21.3, 6.5 Mb downstream of CDKL5. The FOXG1 gene (1 exon) spans ~3.2 kb of genomic DNA and is located on chromosome 14q12, 29.2 Mb from the p-telomere. The P189-C1 CDKL5 probemix contains probes for each exon of the ARX, NTNG1 and FOXG1 genes as well as each exon of the CDKL5 major transcript variant NM_003159.2 and one probe for the exon 16b (numbered as intron 18 probe) described in the Fichou article. In addition, 9 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes in a DNA sample. Heterozygous deletions of autosomal recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Deletions of a probe’s recognition sequence on the X-chromosome will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognisable by a 35-50% reduction in relative peak area. Note that a mutation or polymorphism in the sequence detected by a  probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons.

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