General information
The SALSA MLPA Probemix P443 KANSL1 is a research use only (RUO) assay for the detection of deletions or duplications in the KANSL1 gene, which is associated with Koolen-de Vries syndrome.
Koolen-de Vries syndrome, also known as 17q21.31 deletion syndrome, is characterised by developmental delay, neonatal/childhood hypotonia, dysmorphisms, congenital malformations and behavioural features. Global psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with the 17q21.31 deletion syndrome function in the mild to moderate range of intellectual disability. Other findings include epilepsy, congenital heart defects, renal and urologic anomalies and cryptorchidism. KANSL1 (previously known as KIAA1267) is located in the 17q21.31 critically deleted region (Zollino et al. 2012). Please note, that 17q21.31 duplications affecting the 5′ coding exons of the KANSL1 gene have been described in healthy individuals by Steinberg et al. (2012). The authors found that almost 60% of Europeans carry at least one of three known duplications. In our quality testing we found comparable results.
The KANSL1 gene (15 exons) spans ~163 kb of genomic DNA and is located on chromosome 17q21.31, ~41 Mb from the p-telomere.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK24676/.
This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P443-A2 KANSL1 contains 32 MLPA probes with amplification products between 128 and 364 nucleotides (nt). This includes 19 probes for the KANSL1 gene: probes for each exon except exon 12 and extra probes for exons 2, 3, 4 and 15. This probemix also contains one extra probe for the first exon of transcript variant 2 (NM_015443.4 sequence), which is located 0.5 kb upstream of exon 1 of the main transcript variant 1 (NM_001193466.2 sequence). Furthermore, this probemix contains four centromeric flanking probes for the KANSL1 gene. Two are located in the MAPT gene and two in the CRHR1 gene. In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com.