The SALSA MLPA Probemix P179 Limb malformations-1 is a research use only (RUO)
assay for the detection of deletions or duplications in the GLI3
genes, which are associated with limb malformations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome and Robinow syndrome.
gene encodes a protein that belongs to the C2H2-type zinc finger proteins. Defects in the GLI3
gene cause a wide variety of phenotypes, including Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome.
gene encodes a transcription factor and is involved in distal limb patterning. Four types of HOXD13
mutations are associated with distinct phenotypes. Expansions in the amino-terminal polyalanine tract cause synpolydactyly (SPD), specific missense mutations cause brachydactyly type E, intragenic deletions or other missense mutations cause SPD with an additional foot phenotype, while a splice site mutation has been reported to cause only foot malformation.
gene encodes a transmembrane receptor tyrosine kinase, which is particularly important for the chondrocyte lineage. Mutations in ROR2
have been shown to result in brachydactyly type B, and in autosomal recessive Robinow syndrome.
More information is available at https://ghr.nlm.nih.gov/gene/GLI3
The SALSA MLPA Probemix P179-B1 Limb malformations-1 contains 43 MLPA probes with amplification products between 130 and 463 nucleotides (nt). This includes 21 probes for the GLI3
gene, two for the HOXD13
gene and ten for the ROR2
gene. In addition, ten reference probes are included detecting 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, 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.