General Information
The SALSA MLPA Probemix P379 NRXN1 is a
research use only (RUO) assay for the detection of deletions or duplications in the NRXN1 gene, which is associated with Pitt-Hopkins-like syndrome 2.
Pitt-Hopkins-like syndrome 2 is characterised by intellectual disability (mental retardation), wide mouth and distinctive facial features, and intermittent hyperventilation/overbreathing.
This syndrome is caused by defects in the NRXN1 gene on chromosome 2p16.3. Neurexin 1 protein is encoded by the NRXN1 gene.Neurexins, including Neurexin 1, are cell-surface receptors that bind neuroligins at synapses in the central nervous system.This transsynaptic complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts.
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 P379-A2 NRXN1 contains 43 MLPA probes with amplification products between 130 and 449 nt. This includes one probe for each exon of the NRXN1 gene.
A second probe is included for exons 1, 10, 19, 20, 23, and 24. Furthermore two probes are included for an alternative exon present in the beta transcript variant (NM_138735.4). This exon is present in intron 18 of the main alpha2 transcript variant (NM_001135659.2).
In addition, 11 reference probes are included and detect 11 different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (
www.mlpa.com).
This Probemix contains nine quality control fragments generating amplification products between 64 and 121 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.mlpa.com.