General information: The SALSA MLPA
Probemix P313 CREBBP is a
research use only (RUO) assay for the detection of copy number variations in the
CREBBP and
EP300 genes, which are associated with Rubinstein-Taybi syndrome (RSTS; OMIM 180849).
RSTS is a well-defined multiple congenital anomalies / intellectual disability syndrome characterised by postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and big toes, and intellectual disability. It occurs generally sporadic, and can be caused by a microdeletion of chromosome 16p13.3, or by a mutation in either CREB-binding protein (
CREBBP) or the E1A-binding protein (
EP300). Birth prevalence is 1 in 100.000-125.000.
Most individuals with RSTS have point mutations in the
CREBBP or the
EP300 gene, most of which will not be detected by the MLPA technique. Partial or complete deletions and duplications of the
CREBBP gene have also been described (Roelfsema et al. 2005). Please note that this P313 probemix is different from the probemix that was used by Roelfsema et al.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1526/.
Probemix content: The SALSA MLPA Probemix P313-B3 CREBBP contains 46 MLPA probes with amplification products between 130 and 490 nucleotides (nt). This includes 34 probes for the
CREBBP gene, One probe for each exon and two probes for exons 1, 2, and 3, and three probes for the
EP300 gene, one probe for exon 1, 4, and 12. 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, 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.