General Information: The SALSA MLPA
Probemix P340 EHMT1 is a
research use only (RUO) assay for the detection of deletions or duplications in the
EHMT1 gene. The
EHMT1 gene (27 exons) spans ~217 kb of genomic DNA and is located on chromosome 9q34.3, ~139 Mb from the p-telomere.
Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome is caused by a microdeletion in chromosomal region 9q34.3 (in 85% of cases) or by a mutation in the
EHMT1 gene coding for euchromatin histone methyltransferase 1. The prenatal phenotype has not yet been characterized.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK47079/.
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 P340-B1 EHMT1 contains 42 MLPA probes with amplification products between 130 and 494 nt. This P340-B1 probemix contains one probe for each exon of the
EHMT1 gene, except for exon 1. Two probes are present for exons 2, 10 and 19. This probemix furthermore contains two probes for
ARRDC1-AS1 (previous name:
C9orf37) which is located ~1 kb upstream of
EHMT1 exon 1, and one probe for the
CACNA1B gene, which is located ~50 kb downstream of
EHMT1. In addition, nine reference probes are included in this probemix, detecting nine 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 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.