The SALSA MLPA Probemix P075 TCF4-FOXG1 is a research use only (RUO)
assay for the detection of deletions or duplications in TCF4
genes, which are associated with Pitt-Hopkins syndrome (PTHS).
Pitt-Hopkins syndrome is a rare disorder characterized by severe intellectual disability, pervasive developmental delay, ‘atypical’ autistic characteristics, and hyperventilation. PTHS is caused by heterozygous hypomorphic or null mutation or deletion of the transcription factor 4 (TCF4
) gene on human chromosome 18. The TCF4
gene is also a risk factor with highly significant linkage to schizophrenia, presumably via overexpression of the TCF4
gene product in the central nervous system.
Another disorder that has some phenotypical overlap with Pitt-Hopkins syndrome is the congenital variant of Rett syndrome. This syndrome occurs almost exclusively in females and is characterized by hypotonia and mental retardation from the very first months of life. It has been reported that the main cause of the congenital variant of Rett syndrome is mutations in the FOXG1
gene, which encodes a transcription factor of the forkhead family on chromosome 14.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK100240/
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.
The SALSA MLPA Probemix P075-B2 TCF4-FOXG1 contains 50 MLPA probes with amplification products between 130 and 486 nt. This includes 35 probes for the TCF4
gene covering all exons, with additional probes for exons 1, 4, 5, 6, 9, 11 and 20. Next to these, four intronic probes and four probes located upstream of TCF4
were included detecting exons of other transcript variants. Furthermore, five probes for the FOXG1
gene are included, two probes upstream of the gene and three probes targeting exon 1. In addition, ten reference probes are included that detect different 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 121 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