General information: The SALSA MLPA Probemix P058 IGHMBP2 is a research use only (RUO) assay for the detection of deletions or duplications in the IGHMBP2 gene, which is associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1).

SMARD1, also known as distal spinal muscular atrophy 1 (DSMA1) or distal hereditary motor neuropathies type 6 (dHMN6), is a rare autosomal recessive motor neuron disorder that affects infants and is characterized by diaphragmatic palsy, distal muscular weakness, and muscle atrophy. The disease is caused by mutations in the gene encoding immunoglobulin μ-binding protein 2 (IGHMBP2).

'Distal' SMA (DSMA1) is distinguished from 'proximal' autosomal recessive spinal muscular atrophy (SMA) by the primary muscles involved. Like the SMN1 gene, which is mutated in SMA, IGHMBP2 colocalises with the RNA-processing machinery in both the cytoplasm and the nucleus. IGHMBP2 and SMN1 share common functions important to motor neuron maintenance and integrity in mammals. IGHMBP2 is the second gene found to be defective in SMA (Grohmann et al. 2001).

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 P058-A4 IGHMBP2 contains 25 MLPA probes with amplification products between 131 and 375 nucleotides (nt). This includes 16 probes for the IGHMBP2 gene, one probe for each exon of the gene and two probes for exon 1. 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.mlpa.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.mlpa.com.