The SALSA MLPA Probemix P267 Dandy-Walker is a research use only (RUO)
assay for the detection of deletions or duplications in the ZIC1
, and FOXC1
genes, which are associated with Dandy-Walker malformation.
Dandy-Walker malformation (DWM) is a central nervous system disorder characterized by hypoplasia or absence of the cerebellar vermis with upward rotation of the vermis and/or smaller cysts with a normal posterior fossa. Hydrocephalus is typically not present in foetuses with DWM in utero, but it frequently develops as a secondary complication postnatally. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions. In the majority of individuals with DWM, signs and symptoms caused by abnormal brain development are present at birth or develop within the first year of life. DMW is estimated to affect 1 in 10.000 to 30.000 newborns.
Defects in the ZIC1
genes on chromosome 3q24, or in the FOXC1
gene on chromosome 6p25 are among the causes of DWM. The proteins encoded by these genes are zinc finger protein of the cerebellum 1, zinc finger protein of the cerebellum 4, and Forkhead Box C1, respectively (Aldinger et al. 2009). Deletions in the VLDLR
gene have been reported to result in a different form of cerebellar hypoplasia that is also characterized by ataxia, disturbed equilibrium and mental retardation (Boycott et al. 2005, Moheb et al. 2008, Turkmen et al. 2008). Most DWM cases are sporadic.
More information is available at https://ghr.nlm.nih.gov/condition/dandy-walker-malformation
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 P267 Dandy-Walker contains 44 MLPA probes with amplification products between 142 and 492 nt. This includes 3 probes for FOXC1
, 19 probes for VLDLR
, 4 probes for ZIC1
, and 6 probes for ZIC4
. This probemix also contains two probes for the SMARCA2
gene, which is also located in the 9p24 region, downstream of VLDLR
. In addition, 10 reference probes are included and detect 9 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.