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SALSA MLPA KIT P267 Dandy-Walker Malformation
[http://www.geneclinics.org/profiles/hht/details.html]
Dandy-Walker Malformation (DWM) is a form of cerebellar hypoplasia. This was first described by Dandy and Blackfan in 1914. In 1942, Taggart and Walker defined the main clinical and pathological features after which Benda designated this disorder as Dandy-Walker syndrome. DWM is characterized by hypoplasia and upward rotation of the cerebellar vermis, cystic dilation of the fourth ventricle and hydrocephalus. Patients often suffer from delayed motor development, ataxia and hypotonia. Approximately half of them show mental retardation. In addition, other anomalies have been describes including agenesis of the corpus callosum, visual deficits and epilepsy. In some persons diagnosed with DWM deletions of 3q2 were found, encompassing the ZIC1 and ZIC4 genes. Grinberg et al. showed that heterozygous loss of ZIC1 and ZIC 4 in mice resulted in a DWM-like phenotype. This P267-A1 DWM probemix contains probes for the ZIC1, ZIC4 and VLDLR genes. A deletion of the VLDLR gene results in an other form of cerebellar hypoplasia. The ZIC1 gene comprises 3 exons, spanning about 7.3 kb of genomic DNA. The ZIC4 gene has a size of approximately 20.6 kb and it contains 5 exons. The VLDLR gene has 19 exons and spans 32.7 kb. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the ZIC1, ZIC4 and VLDLR genes. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations and/or polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Therefore, apparent deletions detected by a single probe always require confirmation by other methods. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (pdf)
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
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Last change in probemix content Current lot number
: lot 1207 (December 2007) : lot 1207
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