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SALSA MLPA KIT P029 Williams-Beuren Syndrome
[http://www.geneclinics.org/profiles/hht/details.html]
WILLIAMS-BEUREN SYNDROME (WBS) is an autosomal dominant disorder which in full-blown form includes supravalvular aortic stenosis (SVAS), multiple peripheral pulmonary arterial stenosis, characteristic facies (elfin face), mental retardation, characteristic dental malformation, infantile hypercalcemia and a length according to age below average at approximately the third percentile. These traits are often not all present in patients. Although WBS patients usually perform poorly on standard IQ tests, they have often remarkable musical and verbal abilities as well as an engaging personality. The most frequent behavioural problems are poor concentration, attention-seeking behaviour and restlessness. The frequency of WBS is estimated at about 1 in 10.000. A deletion of the 7q11.23 chromosomal region, including the ELN gene is found in approximately 90-95% of the clinically typical WBS patients but in a lower percentage of atypical cases. The commonly deleted chromosomal region has a size of approximately 1.5 Mb and is flanked by two highly homologous DNA sequences. However, smaller deletions involving only the ELN gene, or the ELN and LIMK1 genes have also been described in SVAS and atypical WBS patients. The probemix includes probes for the following genes located in the WBS critical region: ELN: Elastin gene. Hemizygous deletion of the ELN gene is found in 90-100 % of the WBS patients. Disruption of the ELN gene is also the cause of supravalvular aortic stenosis (SVAS). However, only a minority of WBS patients have severe clinical SVAS. CYLN2: The gene for the cytoplasmic linker 2, or the cytoplasmic linker protein 115 (CLIP115). The cytoplasmic linker proteins are supposed to mediate the interaction between specific membranous organelles and microtubules. The neurological features of WBS may be related to haploinsuffiency of CYLN2 (Hoogenraad et al, Nature Genet. 32: 116-127, 2002). FZD9: A homologue of the Drosophila frizzled wnt receptor. TBL2: A transducin-beta like gene. STX1A: The Syntaxin 1A gene. The protein plays a central role in neurotransmitter release. LIMK1: The LIM Kinase gene. This gene is strongly expressed in brain and is also a candidate for some neurologic features of WBS. RFC2 is the gene for subunit 2 of the replication factor C, which is involved in DNA replication. It has been suggested (Am.J.Hum. Genet. 58, 1370-1373 (1996)), that deletion of one copy of the RFC2 gene might lead to reduced efficiency of DNA replication, which might account for growth deficiency as well as developmental disturbances. FKBP6: The FKBP6 protein shows structural homology to FKBP immunophilins, which are cellular receptors for the immunosuppressive drugs FK506 and rapamycin. Deleted in all or most of Williams syndrome cases (Meng, X et al, Genomics 52: 130-137, 1998).
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0403 (April 2003) Current Lot Number.: Lot 0606
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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