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SALSA MLPA KIT P026-C1 Sotos syndrome
[http://www.geneclinics.org/profiles/hht/details.html]
Lot 1107: as compared to the previous lots 0804/1005, the 88 and 96 nt (DD-) DNA Denaturation control fragments have been added. In addition, small changes have been made to many probes, resulting in a more even peak pattern. The probemix version has changed to C1. SOTOS SYNDROME is a disorder that is characterized by excessively rapid growth during childhood, advanced bone age, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. Affected children have large hands and feet from birth. Growth is rapid in the first years of life, but final height may not be excessive. Handicaps tend to improve with age, which makes identification of affected adults difficult. It has recently been shown that Sotos syndrome is caused by mutations in the NSD1 gene that encodes the Androgen Receptor-associated coregulator 267 (ARA267 / NUP98) protein (Kurotaki,N. et al, (2002) Nature Genetics 30, 365-366). Complete deletion of the NSD1 gene on chromosome 5q35 was found to be the cause in approximately 50% of the Sotos syndrome cases in the studied population. Point mutations were identified in 4 out of 38 individuals. Other publications have indicated a lower percentage (< 20%) of exon or complete gene deletions in SOTOS syndrome patients (Jenny Douglas et al (2003) Am. J. Hum. Genet. 72: 132-143 & Nazneen Rahman, personal communication) The NSD1 gene has 23 exons and covers approximately 162 Kb. This probemix contains one probe for each exon (2 probes for exon 1), 2 probes for the FGFR4 gene located just before the NSD1 promotor, as well as 2 probes close to the 5q telomere. In addition, several control probes on various chromosomes are present. This SALSA MLPA kit is designed to detect deletions / duplications of one or more exons of the NSD1 gene. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations/polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon therefore 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)
Last change in probe mix content: Lot 1107 (November 2007) Current Lot Number.: Lot 1107
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 J Douglas, Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification.
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